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FBN1 or Fibrillin 1
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∙ 13y ago
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Why does Lesch-Nyhan syndrome affect males?
The HPRT gene is located on the X chromosome. Since the HPRT gene is located on the X chromosome, Lesch-Nyhan syndrome is considered X-liked. This means that it only affects males.
Why is it not possible to use the FBNI gene to diagnose Marfan syndrome?
It is presently not useful as a diagnostic test because there is evidence that there can be mutations in the fibrillin gene that do not produce Marfan.
What gene is affected by Barth syndrome?
Barth syndrome occurs when a person is born with a mutated, or abnormal, TAZ1 (or G4.5) gene. This abnormal gene is located on the X chromosome, which is a sex-determining chromosome. Males have one X and one Y chromosome, while females have two X chromosomes.
Is gene therapy a possiblilty for marfan's syndrome?
Unfortunately no. The mutation that causes Marfan syndrome is found in every single cell in the body. It would be impossible to replace it in every cell.
What does it mean to say that a gene is linked to a chromosome?
This means that the gene is physically located on that particular chromosome.
What is the etiology of marfan syndrome?
The etiology of marfan syndrome would be the mutations in the protein FBN1 in the gene chromosome 15.
On which chromosome is the defective gene located in Hurler's syndrome?
chromosome 4
How do you get the Marfan syndrome?
you get it from one gene from your family
What is a Marfan Syndrome?
marfan syndrome is genetic disorder of connective tissue of the body. it cause a mutation of the gene that produces the protein fibrillin.
Why does Lesch-Nyhan syndrome affect males?
The HPRT gene is located on the X chromosome. Since the HPRT gene is located on the X chromosome, Lesch-Nyhan syndrome is considered X-liked. This means that it only affects males.
Can marfan syndrome kill you?
Yes. Marfan syndrome is a connective tissue disorder (gene mutation on chromosome 15) that affects the integrity of elastic fibers. The aorta has a large amount of elastin. Therefore, an aortic dissection (tear) is more probable in a person with Marfan syndrome and a dissection is often fatal. Regular checkups by a cardiologist are needed to monitor the health of the heart valves and the aorta.
What gene or chromosome is affected by down syndrome?
Chromosome 21 is tripled in Down syndrome.
What is the genotype of an individual who has Marfan syndrome?
Marfan is an autosomal dominant disorder, which means that if someone inherits a defected gene from either parent, he will have Marfan syndrome. 75% of people with Marfan got it from their parents; the other 25% were the result of random mutations that happened in the first days or weeks of the pregnancy. This syndrome is caused by a mutation in the FBN1 gene on chromosome 15, which is necessary for structural and maintenance of elastic, connective tissue fibers. Everyone has this gene in them. There are over 600 different mutations on FBN1 that can cause Marfan. FBN1 mutations can also result in other disorders as well, like ectopia lentis and MASS Phenotype.
What chromosome is affected by Marfan syndrome?
Since the traits for hemophilia are carried on the X chromosome and not the Y, it is more probable for females to have a chromosome with the mutation. Since the mutation is considered recessive and males only have one X chromosome, they are more likely to portray the phenotype for hemophilia than their female counterparts.
Is the disease marfan syndrome a chromosomal ad normality?
Yes. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.
Why is it not possible to use the FBNI gene to diagnose Marfan syndrome?
It is presently not useful as a diagnostic test because there is evidence that there can be mutations in the fibrillin gene that do not produce Marfan.
Will a baby be born with marfan syndrome if father has it?
There is a 50% chance that the baby will have Marfan. The father might pass on the gene that has the Marfan mutation, or he might pass on the gene that does not. Each child you have together has a 50% chance.
