What is the carrier frequency of familial dysautonomia in Ashkenazi Jews?

The carrier frequency of familial dysautonomia in the Ashkenazi Jewish population is approximately 1 in 30. This disorder is a recessive genetic condition caused by mutations in the IKBKAP gene, and its higher prevalence in this demographic is attributed to a combination of genetic drift and the founder effect, where a small group of individuals carries a disproportionate number of deleterious alleles.

Ashkenazi Jews have unique genetic backgrounds due to historical population bottlenecks and limited intermarriage. This has resulted in several genetic conditions, including familial dysautonomia, being more common in this population compared to the general population. Understanding these carrier frequencies helps genetic counselors provide appropriate risk assessments and carrier screening options to affected families.

While other frequencies presented in the choices may relate to other genetic conditions, the established carrier frequency for familial dysautonomia specifically in Ashkenazi Jews is most accurately reported as 1 in 30.