Tuesday, March 19, 2013
Genetic Disorders Assignment
Single Gene Genetic Disorders
Your Task: Research the following information about a single-gene genetic disorder of your choosing and write up a short summary on your Google account or on MS Word, which you will then copy and paste into a comment on this blog post.
1. Choose any one of the single-gene genetic disorders listed below and research it. You can highlight the disorder, copy it, and paste it into a Google search.
2. Learn if the disorder is sex-linked or autosomal and dominant or recessive.
3. Find out which chromosome the mutation is on, and what problems are caused by the mutated gene.
4. Describe the phenotype of people with this disorder.
5. Include references of where you got your information.
6. Submit your typed paragraphs as a comment on this post:
a. Click on “Comments” at the end of this post
b. Type in or paste your paragraphs about the disorder you chose to research and click “Publish”
c. You will be required to log in to your Google account to create a blogger profile, which should be your first name and last initial (mine would be Ryan H), which identifies the comment as yours
d. Make sure your comment appears as you want it
e. Log out of your Google Account
f. You're done!
Familial hypercholesterolemia X-linked vitamin d-resistant rickets
Polycystic kidney disease Colorblindness
Neurofibromatosis type I Achondroplasia (dwarfism)
Hereditary spherocytosis Male patterned baldness
Marfan syndrome X-linked ichthyosis
Huntington's disease East syndrome
Sickle cell anemia Gunther disesase
Cystic fibrosis Diastrophic dysplasia
Tay-Sachs disease Apert syndrome (webbed digits)
Phenylketonuria Niemann–Pick disease
Mucopolysaccharidoses Xeroderma pigmentosum
Lysosomal acid lipase deficiency Vici syndrome
Glycogen storage diseases Oguchi disease
Galactosemia Sabinas brittle hair syndrome
Duchenne muscular dystrophy Roberts syndrome
Hemophilia
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ReplyDeleteHemophilia is a hereditary genetic Disorder that damages the ability to control blood clots. It also impaired the ability to coagulation. When this happens, the body is no longer able to stop bleeding when a blood vessel is broken.
ReplyDeleteHemophilia is recessive and is also Sex-Linked. Hemophilia is more likely to occur in Males than females. That being said, it is easy to conclude that Hemophilia is on the x chromosome.
Sources:
http://answers.yahoo.com/question/index?qid=20110217174538AASetJZ
http://en.wikipedia.org/wiki/Haemophilia
Hemophilia is recessive and is also sex linked. Hemophilia is on the x chromosome which slows down blood clotting. Hemophilia is caused by a defect in one of the body's proteins that controls how the blood clots. When it's not working correctly, it takes longer for the blood to clot. For example if a person were to get a cut or get hurt and bleed they wouldn’t stop because the blood would keep flowing out unless pressure was applied or they could bleed to death. People, especially those who have the more severe forms of hemophilia, often need regular blood infusions of the protein that their body lacks. I got my sources from wiki. yahoo answers.
ReplyDeleteHuntington’s disease is autosomal and is a dominant trait. Huntington’s disease is cause when chromosome 4 has a mutation. Huntington’s disease is a brain disorder caused by the brain not getting enough of the right proteins. When the brain doesn’t get these then the nerve cells in the brain become damaged, causing various parts of the brain to deteriorate. It affects the brains knowledge of movement, behavior, and cognition. When somebody has these you can’t really tell. They look just like us the nerves in their brain just have damage unlike ours.I used Medical News Today and Wikipedia as my references.
ReplyDeleteSickel cell disease is autosomal and it is recessive. Its where your red blood cells are shaped wierd with rigidy shaped sides all around it. The mutation first begins hemogblin gene. If you have this disease you have a very short expcected life excpectentsy. they say you might live past 50 if your lucky enough. This disease is found more in people who live in tropical and some sub tropical places around the world. These places have one thing in common they all have had or still have malaria there. Some people in the tropical areas are sometimes immune to the disease this means it is very difficult for them to get because they were born that way or they have all ready had it. Sickle disease is a trait that is past down to one person to another some might never get it but if you do they might be in a bad spot. It doesn’t say if theres a cure for this disease and I would like to know because this is a very crazy sounding disease.
ReplyDeleteHuntington’s disease is an autosomal, dominant condition. Huntington’s Disease is found on chromosome 4. The mutated gene causes uncontrolled movements, emotional problems, and the loss of thinking ability. A section of DNA is repeated three times. This disease effects the brain in major ways. It makes it difficult for them to talk, walk, think correctly. In other words it’s hard for them to use their motor skills. The people do not get enough of the right protein that they need, so since they don’t get enough of them it causes damage to the nerve cells in their brain. This causes the brain to deteriorate. It starts occuring from approximately ages 35-45 years old. Although they can’t function as well as any “normal person,” it isn’t always noticable that a person has this disease. To find this information I used Wikipedia.
ReplyDeleteThe disease is caused by an Autosomal Dominant Mutation in either of an individual's two copies of a gene called Huntingtin, which means any child of an affected person typically has a 50% chance of inheriting the disease. This disease is usually found when you are 35 to 44 years of age. This is located on the short arm of Chromosome 4. Part of this gene is a repeated section called a trinucleotide repeat, which varies in length between individuals and may change length between generations. When the length of this repeated section reaches a certain threshold, it produces an altered form of the protein, called mutant Huntingtin protein (mHtt). The differing functions of these proteins are the cause of pathological changes which in turn cause the disease symptoms. In the early stages, there are subtle changes in personality, cognition, and physical skills. Also you become very uncoordinated, and mental abilities generally decline into dementia. Complications such as pneumonia, heart disease, and physical injury from falls reduce life expectancy to around twenty years after symptoms begin.
ReplyDeletehttp://en.wikipedia.org/wiki/Huntington%27s_disease
Male Pattern Baldness.
ReplyDeleteMale pattern baldness is a genetic condition which mainly occurs in men. It affects the hair follicles on the head of the body. The hair follicles on the head shrink in size over time, meanwhile the hair itslef grows thinner and shorter. It follows a horseshoe pattern over time, that is also why it is called PATTERN baldness. Male pattern baldness is a sex-linked trait that is attached to the x chromosome in men. The gene is technically dominant in nature. Citations: Wikipedia, Web MD.
sickel disease with the tg is tyce
ReplyDeleteThis comment has been removed by the author.
ReplyDeleteSabina's brittle hair syndrome is an autosomal recessive genetic trait. Some of the symptoms are brittle hair, mild mental retardation and nail dyspepsia. It has to be handed down from ones parents. The disorder follows an autosomal recessive pattern of inheritance meaning that two copies of the defective gene must be given for the disease to appear.
ReplyDeletehttp://en.wikipedia.org/wiki/Sabinas_brittle_hair_syndrome
The one I have Chosen is X-linked vitamin -d resistant rickets. This disease is sex linked and it is dominant. It can either be dominant in the mother or father.This XHL has a mutation in the PHE gene sequence which is located on the X chromosome on the location Xp 22.2-21.1. It can cause bone mineralization, it can also affect the equilibrium which can affect the balance of knees/ ankle joints which are inward or outward. Someone whos do not have this disease can touch their knees together and their ankles together. This disease is linked on the X dominant. This is located on the X chromosome which if only one X has it you can get the disease because it was inherited by one parent. This disease is found more in men the females. Males who have this disease can touch their ankles but not their knees( outward. Females that have this disease can touch their knees but not their ankles(inward).
ReplyDeleteOguchi disease also known as congenital stationary night blindness is an autosomal recessive form of congenital stationary night blindness associated with Fundus discoloration and abnormally slow dark adaptation. There have been several mutations implicated as the cause of Oguchi disease this includes mutations in the arrestin gene and the rhodopsin kinase gene. Problems associated by this disorder include non progressive night blindness since early childhood with normal day vision. The phenotype of a person with Oguchi disease is night blindness. This disease is found mostly in people of Japanese ethnicity.
ReplyDeleteColor Blindness is a disease that causes your eyes to see colors differently than normal vision people would. It is found in the eye in the cells called cones. These cells are found in the retina which is the line that lines the black part of you r eye that is the light sensitive layer that helps you see colors. Color Blindness is a sex-linked trait that is found on the X chromosome that is recessive. This means it is way more common in men because men only have one X. Because the disease is sex-linked, it is on the sex chromosome (XX,XY). Colorblindness doesn't mean you can't see color, but just that the color that you see may be different than the color that normal vision people would see. For example, normal people would look at a rainbow and see all of the colors, but those with colorblindness could see completely different colors. (Wikipedia) (Colorblinder)
ReplyDeleteBaelie M.
ReplyDeleteSBHMD (Sabina’s brittle hair and mental deficit syndrome) is a rare disease that is passed down by family members. SBHMD causes brittle hair and nails, and slight mental disability. The genetic mutation that causes SBHMD is currently unknown, but follows an autosomal recessive pattern of inheritance, which means two copies of the gene must be inherited from both parents to get the disease. SBHMD is a very rare disease that affects about 20 people worldwide. People diagnosed with SBHMD are able to live their lives normally with characteristics like low hair cystine levels and slight intellectual disabilities.
Source:
http://www.naturalstandard.com/index-abstract.asp?create-abstract=condition-sabinasbrittlehair.asp&title=Sabinas%20brittle%20hair%20and%20mental%20deficit%20syndrome
About 1 in 5,000 people have Marfan syndrome. This includes men and women of all races and ethnic groups. Marfan syndrome is a disorder that affects the connective tissue. People with this syndrome usually are tall and have long thin arms and fingers. It is dominate so people who have inherited one affected FBN1 gene from either parent will have Marfan syndrome. The mutation is located on chromosome 15. Each parent with the condition has a 50% risk of passing the genetic defect on to any child due to it is dominant and autosomal. There are more that 30 different signs and symptoms. The most common are Skeletal system Eyes, Cardiovascular system, Lungs,Central nervous system. People with Marfan's are really tall and it is common to become nearsighted.
ReplyDeleteRoberts syndrome is a very rare recessive disease found on chromosome 8. It is found equally in men and women, so it is autosomal. In Roberts syndrome, cell division is slow and uneven, and abnormal cells die. This is because copies of chromosomes in the cell are frequently not attached to the centromere, which can lead to the chromosomes not lining up properly, dividing slowly, or not dividing at all. Roberts syndrome can lead to malformations of the bones in the skull, face, arms, and legs. Prenatal growth retardation, limb malformations, and craniofacial abnormalities are also some affects of Roberts syndrome.
ReplyDeleteSource: http://en.wikipedia.org/wiki/Roberts_syndrome
ReplyDeleteColor blindness
Color blindness is when there is a problem in a pigment in the eyes making it hard for you to see colors. Color blindness is usually a sex linked disorder and recessive. It is mostly found in Males on the X chromosome. This disorder makes it hard to see colors and the brightness of colors. There are different typed of color blindness like red color blind, green color blind, violet color blind and totally color blind.
sources:
Wikipedia and PubMed Health
Roberts syndrome,a rare genetic disorder, is characterized by growth delays before and after birth.Which is mainly caused by disruption of cell division.The syndrome is autosomal, in that there are equal numbers of copies of the gene in both males and females, and recessive.As for carriers of the disorder, they are heterozygote due to the autosomal recessiveness of the disease.
ReplyDeletePeople who have this disease could have at least one or more of the things listed below:
The occurrence of one or more extra or missing chromosomes,the nucleus is smaller than normal, or the nucleus has more than one lobe.As the cause of having those,they have malformations of the arms and legs and distinctive abnormalities of the skull and face. Mental retardation also occurs in some cases,but very rarely are they normal.
Hemophilia is a sex-linked recessive trait on the X chromosome. This results in excessive bleeding from little cuts because their blood cells are unable to clot. Most people with hemophilia are men because men only have one X chromosome. People with hemophilia live relatively normal lives.
ReplyDeleteReference: Kessler CM. Hemorrhagic disorders: coagulation factor deficiencies. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 180.
The blood cells are unable to clot because hemophilia pretty much eliminates all production of the protein responsible for blood clotting.
DeleteThis comment has been removed by the author.
ReplyDeleteMale patterned baldness is caused by a recessive sex-linked trait on the x chromosome that is close to the area that codes for the androgenic alopecia. It is also caused by the allele on chromosome 3. Male patterned baldness affects almost 70% of men and almost 40% of women so it shows up more in men. Androgens can interact with the Wnt signalling pathway to cause to hair loss. (Androgenic alopecia - Wikipedia)
ReplyDeleteColorblindness is a deficiency to be able to see certain colors under normal light conditions and colorblindness is a sex linked trait that is mostly found in men and rarely found in women. This usually a cause in fault in the development of one or more sets of retinal cones that perceive color in light and transmit that information to the optic nerve Genes that produce photo pigments are carried on the X sex chromosome and if some of the genes are missing or damaged then colorblindness will be expressed in males because males only have one X chromosome. Women on the other hand have 2 X chromosomes which if one X chromosome is not damaged than the person won’t get colorblindness. Also colorblind can also be produced by physical or chemical damage to the eye, optic nerve or parts of the brain. About 8% percent of men have color blindness and about .5% of women have color blindness.
ReplyDeleteBy Juan Carlos
Polycystic kidney disease, is autosomal, and dominant. Gene PKD-1 is located on chromosome 16, and codes for a protein involved in regulation of cell cycle, and intracellular calcium transport in epithelia cell, and is responsible for 85% of cases.Polycystic kidney disease, can also be autosomal, and recessive. Is usually found within the first week couple of weeks after birth. Results show that there is a 30% death rate.
ReplyDeleteCroix Hogan
ReplyDeletePer 2
Colorblindness
Color blindness is an autosomal trait because its 2,8 and 14 for ROD monochromacy and 7 for yellow color blindness but for blue red and green is sex linked because its on the X chromosome. Some ways you can get this is by inheriting this from your parents and can be present at birth. For those who get color blindness, one of their cone cells does not function properly or ceases to exist. The phenotype to color blindness is if a male has it then he won't know or you couldn't tell if he had the disease. Most of the time males that are color blind look like everyone else.
X-linked vitamin d-resistant rickets is a sex-linked disease. The disease is a recessive disease. It is located on the X chromosome. This disease causes the skin cells to not spit normally at the surface, and they are not able to shed as quickly as they should be. This makes a build-up of scales. The people who have this disease are able to live a normal life they just have spots all over their body that are scaley. With the non-working cells they make it so that the cells don’t degenerate and build up. This is what makes the scales like skin. http://www.firstskinfoundation.org
ReplyDeleteLizzy Wiltse
DeleteApert syndrome is an autosomal dominant trait, .which means that only one parent needs to pass on the bad gene for a child to have the condition.
The mutation is on the gene called fibroblast growth factor receptor 2 (FGFR2) also called CD332 cluster of differentiation 332. This gene is on the 10th chromosome.
This mutation causes some of the bony sutures of the skull to close too early.
SYMPTOMS:
Frequent ear infections
Hearing loss
Fusion or severe webbing of the 2nd, 3rd, and 4th fingers, often called "mitten hands"
Under development of the midface
Prominent or bulging eyes
Webbing or fusion of the toes
Short height
Skeletal abnormalities
The phenotype of people with this disorder could be either AA or Aa because the trait is dominant.
CITATIONS
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002548/
http://en.wikipedia.org/wiki/Apert_syndrome
Tay-sachs disease is a build up of ganglioside a chemical that is found in nervous tissue. The portion hexosaminidase A help break down the ganglioside but is the body can not make this portion then so that there is no build up in the nervous tissue especially in the bain, someone who has the disease will get symptoms like deafness, blindness, loss of motor skills, seizures and slow growth. The people that get this disease and mostly kids who both parents are carriers of it and pass it down to them on there recessive and on the X chromomose and the kids can have symptoms well in the womb and usually kids don’t live to the age of 5 year of age.It is also very rare for adult to late-onset Tay-sachs disease.
ReplyDeleteThis comment has been removed by the author.
ReplyDeleteColorblindness is the inability to see a certain color. Colorblindness is usually caused by a missing or damaged photopigments which are found on the X chromosome. Colorblindness can also be caused by a physical or chemical damage to the eye, the optic nerve, or the brain. Colorblindness is not a major disability since it barely affects your vision. Colorblindness is much more common among guys because it is a Sex-Linked trait on the X chromosome and guys only have 1 X and girls have 2 X’s. For a guy if that one X is affected then he instantly has it. For a girl if one of those X’s isn’t affected then the girl doesn’t have colorblindness.
ReplyDeleteCitation: Wikipedia contributors. "Color blindness." Wikipedia, The Free Encyclopedia. Wikipedia, The Free Encyclopedia, 20 Mar. 2013. Web. 20 Mar. 2013.
Color blindness
ReplyDeleteColor Blindness is a sex-linked deficiency. The gene that is on the X chromosome that produces the protein for normal color vision is either missing or damaged. Males have a higher possibility of this deficiency because they only get one X chromosome. Color Blindness can also be caused by damage to the eye. Though this is labeled as a disability, it can give some people an advantage to seeing some colors. Though it depends on the type of color blindness that the individual has. In the end it only affects how the individual sees colors. It does not cause any physical or mental damage to the body.
This comment has been removed by the author.
ReplyDeleteColorblindness is a recessive trait caused by a mutation on the x chromosomes. It is a sex-linked disease. The mutations on the x chromosomes mess with the rod and cone cells in your eyes that are used to help see color. Men are more likely to get the disease because they only have one x. Women are less likely because they have 2 x’s and for them to get the disease both x’s have to be recessive. so men are more likely to have color blindness than women.
ReplyDeleteSources: http://www.news-medical.net/health/What-is-Color-Blindness.aspx and http://en.wikipedia.org/wiki/Color_blindness#Classification
EAST Syndrome
ReplyDeleteEAST syndrome is an autosomal recessive disease that stands for Epilepsy , Ataxia ( a movement disorder) , Sensorineural deafness (deafness because of problems with the hearing nerve) and salt-wasting renal Tubulopathy (salt loss caused by kidney problems).That is caused by mutations in the gene KCNJ10. some symptoms are mental retardation and deafness it also causes many defences in magnesium and calcium. Giving a victim of the EAST syndrome calcium and magnesium supplements is a common “fix”.
"East syndrome." (2012): 1. Web. 20 Mar. 2013. .
Sabinas Brittle hair syndrome causes abnormally brittle hair & nails, and mild mental retardation. It was first observed in the community of Sabinas, Mexico. It is a recessive autosomal trait. The brittle hair is caused by low sulfur and reduced cystine levels. The exact gene that causes the disease is unknown as there have been too few cases, only about 20, to properly study.
ReplyDeleteSources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1685163/
http://www.naturalstandard.com/index-abstract.asp?create-abstract=condition-sabinasbrittlehair.asp&title=Sabinas%20brittle%20hair%20and%20mental%20deficit%20syndrome
Cystic Fibrosis
ReplyDeleteCystic fibrosis is an autosomal recessive gene that affects the protein CFTR(cystic fibrosis transmembrane conductance regulator). CFTR is responsible for controlling sweat, digestive fluids, and mucus production. Cystic fibrosis mostly affects the lungs, because the protein CFTR controls the movement of sodium and chloride, but it also affects the pancreas, liver, and intestine. Because cystic fibrosis is a recessive gene, it is not very common, due to that only one dominant allele is needed to suppress it. While most people are born with two functioning CFTR alleles, there is a 1 in 3000 chance a child will be born with cystic fibrosis.
Neurofibromatosis type 1 is a condition when patches of your skin change pigment. This usually happens at infancy but later through life the pigments turn in to tumors on or underneath the skin and usually near the nerves in your spine. Most people who have Neurofibromatosis type 1 usually get neurofibromas which cause the tumors underneath the skin but are not cancers. "NF-1 is a tumor disorder that is caused by the mutation of a gene on chromosome 17 that is responsible for control of cell division."
ReplyDeleteMale Pattern Baldness
ReplyDeleteby: Jacob Eckstine
Baldness is when your follicles shrink two a size too small for hair to grow in them.
Your follicles are basically little pits on your head (or other parts of your body) that, by utilizing hormones, grow hair.
Male Pattern Baldness is caused by problems with your genes.
When your follicles shrink so does your hair, over time it becomes shorter, thinner, and rougher.
While common in the world today, it is considered a recessive gene.
If your maternal grand-dad is bald you have a 50% chance of being bald, because your dad only give your his y chromosome it will not matter whether or not his dad is bald.
Makenzie Wells-Seeto
ReplyDeleteDuchenne Muscular Dystrophy is a recessive, X-linked form of muscular dystrophy.
The disorder is caused by a mutation in the dystrophin gene located on the X chromosome which codes for the protein dystrophin, which is important within muscle tissue that provides structural stability to the dystroglycan complex (DGC) of the cell membrane.
Oguchi disease is basically a rare autosomal recessive trait, defined or seen by cognitional stationary blindness during the night hours. It affects the retina in the eye and most people have had the disease since childhood, it's defined by patients by non progressive night blindness with normal day vision, they often claim increased light sensitivities when in a dark environment and have decreased dark-adaption which means they have increased rods in their eyes.
ReplyDeleteIt has also been recognized that the patients have unusual eye colors unless in the dark for three hours or more, their eye colors are silver gray or metallic gold, and they have a reddish discoloration which after the three hours seems to disappear.
It is thought that 48 kD protein S antigen may be involved in the recovery phase of light transduction. Previous cytogenetic and linkage studies have localised the S antigen gene (SAG) to chromosome 2q37.1. It is also known that the segregation data obtained suggested that the affected subjects are homozygous by descent for a region between D2S172 and D2S345. An intragenic SAG polymorphism was homozygous in all affected people and a recombination event suggested that SAG maps proximal to D2S345.
references:
http://eyecare-nagoya.com/event/1/Oguchi.html
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050438/
Huntington’s disease is a disease passed down through families in which nerve cells in certain parts of the brain waist away, or degenerate. Huntington’s disease is caused by a defect on chromosome 4. Huntington’s disease is inherited as an autosomal dominant condition. Individuals with Huntington’s disease may have from 40 to over 100 repeated CAG segments. 624 patients gave no evidence of discrete phenotypes. resources: http://www.ncbi.nlm.nih.gov/pubmed/2948483
ReplyDeleteGunther Disease is a rare disease that affects the amount of plasma, bone marrow, feces, red blood cells, and urine. This disease is Autosomal Recessive as it is passed down. It is located on Chromosome 10 and you must inherit two defective genes to have the disease. Many symptoms include: a reddish coloring to the skin, cramping, a sensitivity to light that may cause rashes, scarring, and blistering. Seizures might take place also in the muscles. This lifelong disease limits a person's life to their 40s-60s.
ReplyDeleteColor Blindness
ReplyDeleteThe most usual cause of color blindness is a fault in the development of one or more sets of retinal cones that takes in color in light and transmit that info to the optic nerve. Color blindness is usually a sex linked condition. Genes that produce Pigments are carried in the X chromosome, so men are usually more affected by color blindness than women because men only have one X chromosome. Color blindness can also be caused from physical damage to the eye or the brain.
Tristan Mihan
Phenylketonuria (PKU) is a disease in which babies are born without the ability to break down amino acids found in proteins, like phenylalanine. PKU is a disorder that is recessive and autosomal and is caused by a mutation on chromosome 12. Problems caused by this disorder can be harmful substances are not broken down and can be harmful to the central nervous system and that can lead to brain damage. Symptoms of PKU can be kids having lighter hair, skin, and eye color than siblings because phenylalanine plays the role of making pigments. A few more symptoms are seizures, skin rashes,tremors, jerking movements of the arms or legs, small head size, and delayed mental or social skills. PKU can really affect a persons life because without the ability to break down certain proteins, more problems can be caused.
ReplyDeleteSources:
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002150/
http://en.wikipedia.org/wiki/Phenylketonuria
Audrey Jones
ReplyDeleteVici Syndrome is the sad disease that is very rare . It’s a multisystem disorder. It’s like an absence of corpus callosum( Part of the brain). Has low muscle tone, delays in action, cataracts, heart muscle disease, and problem with the immune system, seizures, and in some people loss of hearing. The disease can be deadly. For example; children who are born with Vici Syndrome will probably only live to their early years of 3 - 8 years old. Born with Vici, you have inherited two copies of the defective gene on the same autosomes. Seem very Sex-linked. You get one from each parent. If both parents have the gene for it, it’s likely more then one of their children will have it. It’s recessive, not everyone will get it but you can get the gene from the parent not necessary the disease, but can pass onto a disease to your child.
Achondroplasia (dwarfism) is when a protein causes are cartilage to be unable to turn to bone. It is autosomal and a dominant gene. It is equally in men and women, and is on chromosome 4. Possible phenotypes (characteristics) for this disease could be deformities of lower limbs, spinal stenosis, midface hypoplasia and others. Possible problems could be death and deformities.
ReplyDeleteSources: Pubmed.net wikianwsers.com blogspot.com mayoclinic.com
Sickle cell anemia is a disease that happens in your blood stream. Blood cells kind of look like donuts but dont have a missing middle. The sickle cell in the blood streams have abnormal hemoglobin. The hemoglobin in the sickle cells create strands which gives the cell its shape.
ReplyDeleteThe sickle cells are sticky and will stick to each other and stop or slow down blood flow in certian areas. You can get a high risk of infection if you have sickle cell anemia. If you get the gene from both parrents you can get the disease but if you dont get one from each parrent you have what is called sickle cell trait. The disease is Autosomal Recesive wich means it can be passed down but it might not always be there. It is found on the short arm of chromosome 11. People can have fatige and nausea but people are able to live longer with the treatments.
Katie Lyons
ReplyDeleteMr. Herlands
Biology p.4
3/20/13
Huntington’s Disease
Huntington’s Disease is commonly known as HD, and no not the TV brand. It’s a neurodegenerative genetic disorder that affects the muscle coordination and leads to cognitive decline and psychiatric problems. It becomes more noticeable in mid-adult life.The disease is caused by an autosomal dominant mutation. Huntington’s Disease is not a sex-linked mutation. It can be inherited by the mother and father. Physical symptoms can begin at any age between being a newborn to being old. Huntington’s disease is cause when chromosome 4 has a mutation.
Androgenic alopecia (male patterned baldness) is a genetic disease in which the hairline recedes from the temples and top of scalp, leaving hair only on the rim and rear of the head. This phenotype is called the “Hippocratic wreath”. This disease is sex-linked, so a woman with two affected X chromosomes could have androgenic alopecia. This disease is on a recessive allele, and is affected by chromosomes 3 and X. So the parents may not show signs of androgenic alopecia when the child has it.
ReplyDeleteMcElwee, K. J.; Shapiro, J. S. (2012). "Promising therapies for treating and/or preventing androgenic alopecia". Skin therapy letter 17 \
Proctor, P. H. (1999). "Hair-raising. The latest news on male-pattern baldness". Advance for nurse practitioners 7
Sundberg, J. P.; King, L. E.; Bascom, C. (2001). "Animal models for male pattern (androgenetic) alopecia". European journal of dermatology : EJD 11
Soni, V. K. (2009). "Androgenic alopecia: A counterproductive outcome of the anabolic effect of androgens". Medical Hypotheses 73
Pullinen, T.; Mero, A.; Huttunen, P.; Pakarinen, A.; Komi, P. V. (2002). "Resistance exercise-induced hormonal responses in men, women, and pubescent boys". Medicine and science in sports and exercise
Hemophilia
ReplyDeleteHemophilia is caused by a problem a gene that tells the body to make the clotting proteins needed to form a blood clot. These genes are located on the X chromosome. All males have one X and Y chromosome. All females have two X chromosome. When you bleed, the body launches a series of reactions that help the blood clot which is called coagulation cascade. When one or more of the clotting is missing is usually causes a higher chance of bleeding. The main symptom of Hemophilia is bleeding. Some cases may be unnoticed until later in life. In severe cases, serious bleeding can occur without any cause. Internal bleeding can occur anywhere. Bleeding in joints is very common. Often times, hemophilia is diagnosed after someone has a abnormal bleeding episode, or when there is a known family history of the condition.
skylee
Huntington s disease, Is a disease that is in your brain that gets worse over time that affects muscle coordination and leads to cognitive decline and psychiatric problems. It totally becomes noticeable in the mid life of the problem.This is a somewhat noticeable problem if you have it.It is call Huntington's Chorea.This is a sex linked.
ReplyDeleteOguchi disease, also called congenital stationary night blindness, Oguchi type 1 or Oguchi disease, is an autosomal recessive form of congenital stationary night blindness often associated with fundus discoloration and slow dark adaptation. Oguchi disease present with non-progressive night blindness since childhood or birth with normal day vision, but they frequently claim improvement of light sensitivities when they remain for some time in a darkened environment. On examination patients have normal visual fields but the fundi have a diffuse or patchy, silver-gray or golden-yellow metallic color and the retinal vessels stand out against the background. A prolonged dark adaptation of three hours or more, leads to disappearance of this unusual discoloration and the appearance of a normal reddish appearance. This is known as the Mizuo-Nakamaru phenomenon and and is thought to be caused by the overstimulation of rod cells. Several mutations have been implicated as a cause of Oguchi disease. These include mutations in the arrestin gene or the rhodopsin kinase gene. The condition is more frequent in individuals of Japanese ethnicity.
ReplyDeleteHuntington's is a autosomal neurodegenerative disease that affects chromosome 4 in the human body during the copying process. The average human when they copy chromosome 4 copies it about 10-28 times, a person afflicted with Huntington's disease copies that gene about 36-102 times. It is passed down from generation to generation, and through each generation it becomes more apt to become present. Some of the physical characteristics of Huntington's disease would be but are not entirely limited to; Psychosis, Hallucinations, Paranoia, Movement Disabilities, Facial ticks, Moodiness, Irritability, Behavioral Changes, Restlessness or fidgeting. There are many many many symptoms with Huntington's, some more present than others. It is hard to treat these kinds of disease mainly because we have limited knowledge of how they work.
ReplyDeleteThis is Liam bythe way, I have no idea why my name is DriversEd.
DeleteRoberts syndrome
ReplyDeleteroberts syndrome is one of the rarest autosomal recessive disorders affecting approximately 150 known people. roberts syndrome is a mutation of the 8th chromosome and that causes these problems include, smaller than normal head size,upper part of the mouth sticks out farther than the lower part of the mouth, opening in the roof of the mouth,the absence of a thumb and many more disfiguring factors.
http://en.wikipedia.org/wiki/Roberts_syndrome#Symptoms
Huntingtons Disease is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems. It typically becomes noticeable in mid-adult life. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea, which is why the disease used to be called Huntington's chorea.
ReplyDeleteIt is much more common in people of Western European descent than in those of Asian or African ancestry. The disease is caused by an autosomal dominant mutation in either of an individual's two copies of a gene called Huntingtin, which means any child of an affected person typically has a 50% chance of inheriting the disease. Through genetic anticipation, the disease may develop earlier in life in each successive generation. About 6% of cases start before the age of 21 years with an akinetic-rigid syndrome; they progress faster and vary slightly. The variant is classified as juvenile, akinetic-rigid or Westphal variant HD.
Genetic testing can be performed at any stage of development, even before the onset of symptoms. This fact raises several ethical debates: the age at which an individual is considered mature enough to choose testing; whether parents have the right to have their children tested; and managing confidentiality and disclosure of test results. Genetic counseling has developed to inform and aid individuals considering genetic testing and has become a model for other genetically dominant diseases.
Sickle Cell Anemia is a disease inherited from your parents. You have to get a gene from both parents in order to have it so it is sex linked. If you get on infected gene and a normal gene then you have the Sickle Cell trait. Sickle Cell Anemia is recessive. The phenotype for this is either you have two recessive genes(X^aX^a or X^aY; men only get one X so if they have 1 recessive gene on their X chromosome then they have Sickle Cell Anemia) from each infected parent or you got a dominant gene from one parent, which would make them a carrier(X^AX^a= carrier, only a girl can be a carrier with this disease). For Sickle Cell Anemia either you are negative and don’t have it at all and neither do your parents, you are a girl and a carrier, or you are a man or a girl have it and got both recessive genes from your parents.
ReplyDeleteAnswers.com
Kidshealth.org
www.nhlbi.nih.gov
Hemophilia is a disease the prevents the blood from clotting. There are two kinds of Hemophilia, Type A and Type B. Type B is more severe than Type A. Type A means the you have low levels of a blood clotting factor called factor eight . And if you have Type B you have low levels of factor nine.Factor eight and nine are a protein the body needs to clot the blood. When you don’t produce enough of these factors you can bleed to death easier and a lot faster. Hemophilia is sex-linked and it is recessive. Also it is most common in men, only because women have two X chromosomes and men have one. Women have a 1 and 2 chances to be a carrier so it’s a fifty percent chance that the male child can get it.
ReplyDelete"Learning About Hemophilia." Learning About Hemophilia. N.p., n.d. Web. 20 Mar. 2013.
Color Blindness means you can not see red , green or blue colors or any mixes of these colors. This condition can be hard to handle in life because it could cause you not to get a job and make it hard to learn. Most vision problems are inherited (genetics) and you are born with it.
ReplyDeleteWe have three types of cone cells in our eyes each of these cells help you see the colors red, green or blue. The cones cells are found in the Macula which is in the middle if the retina. Sometimes color blindness is not inherited , it can be caused by ageing or any injury to the eyes or side effects from medication. Color blindness is sex-linked and recessive because mostly guys are color blind. It is also known has a X-linked recessive because the males control the diseases and they only have one X Chromosome. 1 out of 10 men have some form of color blindness and very few women get colored blind.
Board, A.D.A.M. Editorial. "Color Blindness." Sex-linked Recessive. U.S. National Library of Medicine, 18 Jan. 0001. Web. 20 Mar. 2013
"Color Blindness: Causes, Symptoms, Diagnosis, and Treatment." WebMD. WebMD, n.d. Web. 20 Mar. 2013.
Hemophelia is a bleeding disorder where certain proteins called coagulation factors are missing or lacking. It’s specifically caused from not enough factor VIII or IX. It causes abnormally excessive bleeding, when usually the coagulation factors will stop bleeding by blood clotting, in a process called the coagulation cascade. Even a small cut could cause a large amount of bleeding for hemopheliacs, and things like trauma and surgery could be fatal. Hemophelia is inherited throughout family lines and is more common in males because the gene is carried on the X chromosome. The disorder is sex-linked and recessive.
ReplyDeleteEAST syndrome is a syndrome consisting of the following: Epilepsy, Ataxia, Sensorinueral blindness and salt-wasted Tubulopathy. It is an autosomal recessive genetic disorder caused by mutations in the KCNJ10 gene (responsible for potassium channeling. It results in hypokalemic metabolic alkalosis and Hypomagnesemia, or defeciency of magnesium in the body.
ReplyDeleteApert syndrome is a result of genetic mutation. When you have Apert syndrome, you have a 1 in 2 (50%) chance of passing this condition to your child. However, Apert is not a recessive trait, which means that the unaffected child of a parent with Apert syndrome is no more likely to have a child with Apert than any other person; also, if you have a child with Apert and you do NOT have Apert, YOU are no more likely to have another child with Apert than anyone else in the population. This happens on the gene chromosome 10. It is not sex linked
ReplyDeleteMajor features of Aperts Syndrome are:
Prematurely fused cranial sutures
A retruded midface
Fused fingers
Fused toes
http://www.apert.org/apert.htm
Cystic Fibrosis, currently affecting 70,000 people worldwide.
ReplyDeleteCystic Fibrosis is a recessive and autosomal genetic disease. For example, if a child’s mother and father both are carriers, there is a 25% chance the baby will have the disease.
Cystic Fibrosis is on Chromosome 7, a defect on the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene helps make thin mucus.
The bodies of people with cystic fibrosis create abnormal amount of sticky mucus. This mucus can make it hard to breath by plugging up the lungs. It can also cause lung infections that a person may die from. As well as causing lung problems, cystic fibrosis also blocks the pancreas and block enzymes from helping break down food. Symptoms include salty skin and wheezing.
Information from The Cystic Fibrosis Foundation at cff.org and Genetics Home Reference at http://ghr.nlm.nih.gov/gene/CFTR
BTW I really hope they cure this. The average expected life is to like thirty. My best friend has it. Most like to like... I think sixty according to her, but I still hope they cure it one day.
Delete
ReplyDeleteSabrinas Brittle Syndrome
This is on Sabrinas Brittle Syndrome. Sabrinas Brittle Syndrome (also known as Sabrina’s syndrome or brittle hair-mental deficit syndrome) is an autosomal recessive. Some of the phenotypes are varying mental retardation and being infertile. There is also congenital hypotrichosis, a less than normal amount of hair on the head or body. It is found on chromosome 7.
References:
Wikipedia
Genetic Testing Reference.org
Hereditary spherocytosis (HS):
ReplyDeleteIt is a condition that affects red blood cell.The proteins in the membrane aren’t form correctly and the cytoskeleton. People in this situation involved a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Newborns with this disease have harsh anemia. It can happen from early childhood to adulthood. In general it occurs in families with autosomal dominant forms in HS. The phenotype is that they have sphere-shaped instead of bi-concave disk shaped cells.It is the most common disorder of the red cell membrane, affecting 1 in 2,000 people of Northern European ancestry
http://en.wikipedia.org/wiki/Hereditary_spherocytosis
http://ghr.nlm.nih.gov/condition/hereditary-spherocytosis
http://emedicine.medscape.com/article/206107-overview#a0104
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ReplyDeleteSickle cell anemia
ReplyDeleteSickle cell anemia is autosomal recessive. This disease is caused by a mutation of the hemoglobin gene. The mutation of the gene causes the red blood cells to change shape and become the shape of a crescent. This mutation is found on the short arm of chromosome 11 and the mutation causes fewer hemoglobin cells to be made and less transportation of oxygen.
Source: Wikipedia
Oguchi Disease
ReplyDeleteAlso known as Congenital Stationary Night Blindness, it is a recessive autosomal disease. The mutation is found on chromosome 2 to result in this disease. People with this disease have normal day vision, but light sensitivity improves after a long period of time in dark.
Tay-Sachs disease is very rare. It is an inherited disorder, that destroys nerve cells in the brain and spinal cord. It is most common in infancy, from anywhere of 3 to 6 months old when development slows and muscles start to weaken. Infants lose their motor skills such as rolling over, sitting and crawling. Children develop an exaggerated scared reaction to loud noises. People with Tay-Sachs may experience seizures, vision and hearing loss, not being able to talk with others (in an intellectual way) and paralysis. It is noticeable due to an eye abnormality which is called cherry-red spot.
ReplyDeleteThis disorder is autosomal recessive, that is a trait or disorder requiring the presence of two copies of a gene mutation with an observable phenotype; specifically refers to genes on one of 22 pairs autosomes (non-sex chromosomes). The malfunction happens on chromosome 15, what happens is that is a mutation in HEXA. This genes provides instructions for making part of an enzyme that is called, beta-hexosaminidase A. Beta-hexosaminidase A, plays a critical role in the brain and spinal cord. The enzyme is located in lysosomes, and in the lysosomes beta-hexosaminidase A helps break down a fatty substance GM2 ganglioside. Mutations happen the HEXA gene which disrupts Beta-hexosaminidase A and that prevents enzymes to break down GM2 ganglioside. This results in having toxic levels accumulate.
Source:http://ghr.nlm.nih.gov/condition/tay-sachs-disease
Tay-Sachs disease is very rare. It is an inherited disorder, that destroys nerve cells in the brain and spinal cord. It is most common in infancy, from anywhere of 3 to 6 months old when development slows and muscles start to weaken. Infants lose their motor skills such as rolling over, sitting and crawling. Children develop an exaggerated scared reaction to loud noises. People with Tay-Sachs may experience seizures, vision and hearing loss, not being able to talk with others (in an intellectual way) and paralysis. It is noticeable due to an eye abnormality which is called cherry-red spot.
ReplyDeleteThis disorder is autosomal recessive, that is a trait or disorder requiring the presence of two copies of a gene mutation with an observable phenotype; specifically refers to genes on one of 22 pairs autosomes (non-sex chromosomes). The malfunction happens on chromosome 15, what happens is that is a mutation in HEXA. This genes provides instructions for making part of an enzyme that is called, beta-hexosaminidase A. Beta-hexosaminidase A, plays a critical role in the brain and spinal cord. The enzyme is located in lysosomes, and in the lysosomes beta-hexosaminidase A helps break down a fatty substance GM2 ganglioside. Mutations happen the HEXA gene which disrupts Beta-hexosaminidase A and that prevents enzymes to break down GM2 ganglioside. This results in having toxic levels accumulate.
Source:http://ghr.nlm.nih.gov/condition/tay-sachs-disease
Neurofibromatosis type 1 is a multisystem genetic disorder that is associated with cutaneous, neurological, and orthopedic manifestations. It is also a tumor disorder cause by a mutation of a gene on chromosome 17. It is a autosomal disorder that is dominant also. The disease encodes a protein called neurofibromin, which is found on chromosome 17, that plays a role in cell signaling. People with neurofibromatosis type 1, has very few allele phenotypes identified, because neurofibromatosis is very complex, it is very age dependent, and has relations to major mutations and diseases.
ReplyDeletesources:
"Result Filters." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 20 Mar. 2013.
"Neurofibromatosis Type I." Wikipedia. Wikimedia Foundation, 20 Mar. 2013. Web. 20 Mar. 2013.
Neurofibromatosis Type I is caused by a mutation of the gene on chromosome 17 that codes for Neurofibromin. Neurofibromin plays an important role in cell signalling. Neurofibromin regulates a signalling pathway for certain Ras proteins, of which some control cell growth. The main result of neurofibromatosis is cancerous nervous tissue. I can surmise that the malformed protein that results from neurofibromatosis must mess with the transmission of cell growth proteins and result in cancers. The resultant tumors often result in scoliosis, eye problems, learning disorders, and epilepsy, among other possible symptoms. The gene that codes for Neurofibromin contains 350,000 base pairs, yet the protein itself contains only 2818 Amino Acids. This leads to the belief that there are multiple variants of the protein within the gene. The allele that causes this disorder is dominant, so it cannot hide in someone’s genes.
ReplyDeleteWikipedia contributors. "Neurofibromatosis type I." Wikipedia, The Free Encyclopedia. Wikipedia, The Free Encyclopedia, 16 Mar. 2013. Web. 21 Mar. 2013.
The Gunther Disease that is extremely rare, congenital variation of Porphyria. The Porphyria is a Disease that is manifested in the body's inability to generate the chemical heme that is found in the bone marrow, red blood cells and liver. Gunther’s Disease lacks the natural Occurring chemicals called porphyria. This builds up the toxic levels in the body.
ReplyDeleteGunther's Disease includes extreme sensitivity to sunlight. This can cause blistering and Scarring. It also causes increased hair growth on the face and forehead, Because of the Chemical change in the body the teeth can turn red and Glow. People with this disease must avoid sun light and have a restricted diet so they don’t have a porphyria attack. Most might know this disease as the “Vampire disease,” because its symptoms are closely related to the Mythological symptoms related with Vampires.
http://sickdujour.blogspot.com/2009/04/gunthers-disease.html