Fabry Disease Essay

Your assignment is to write a short report to this woman. This report should describe what is known about the genetic basis of this trait (OMIM number, inheritance, chromosomal location, gene function, metabolic basis, treatment, etc.). What is the probability that a child of this woman will be affected? What is the probability that one of her children will be a carrier? The answer to this question will be affected by many factors (the population frequency of the allele responsible for this trait, the mode of inheritance, etc.). As the frequencies of many diseases vary across human populations, you are free to choose from which population the woman is a member. Please clearly state her assumed population origin in your report.

Although rare, Fabry disease is a serious genetic disease with a myriad of signs and symptoms. Fabry disease is the dysfunction of a gene that causes the accumulation of a particular type of fat, called globotriaosylceramide (GL-3). This buildup can cause issues in
However, women have been known to show signs of mild to severe cases of Fabry disease if they are a carrier of the disease. Carriers have heterozygous alleles, meaning they have one functional copy of a gene and one nonfunctional copy. X-linked diseases typically only show in male phenotypes because they only have one X chromosome. If the chromosome has a deleterious mutation, there is no buffering of the second X chromosome, found in females, to mask the mutation. The fact that women who carry one mutation of the GLA gene can have Fabry disease suggests that the masking of the mutation by the other functional gene is not enough to guard against the disease. Because of this, heterozygous females are not actually termed “carriers” for fabry disease since “carrier” implies they have no symptoms, but can pass the disease on to future