Question

Fabry disease is a recessive genetic disorder that leads to the buildup of lipids throughout the body. Men most often have the disease and usually show severe symptoms. Occasionally women have it, and they may have either mild or severe symptoms. Using this information about Fabry disease, what two types of gene inheritance are involved? Explain why you chose these two types.

Answer 1

Fabry disease exhibits X-linked recessive inheritance since men show symptoms more frequently and severely due to having only one X chromosome. Occasional severe symptoms in women suggest a potential influence of autosomal recessive inheritance as well.

Step-by-step explanation:

Fabry disease is associated with two types of genetic inheritance: X-linked recessive inheritance and, potentially, autosomal recessive inheritance. Given that men exhibit the disease more frequently and severely, it suggests that the gene causing Fabry disease is located on the X chromosome. Since men have only one X chromosome, a single recessive gene on the X chromosome will result in the disease, explaining why men present with symptoms more often than women. Women have two X chromosomes, so they would need two copies of the recessive gene to show severe symptoms of Fabry disease, which aligns with X-linked recessive inheritance patterns.

However, occasional severe expression in women implies that another form of inheritance, such as autosomal recessive inheritance, may play a role. In this case, heterozygous women (carriers) may express mild symptoms due to skewed X-inactivation or other genetic mechanisms that allow the expression of the recessive gene on one of the autosomes.