What is the carrier frequency of Tay Sachs disease in the Ashkenazi Jewish population?

The carrier frequency of Tay Sachs disease in the Ashkenazi Jewish population is approximately 1 in 30. This higher carrier frequency is a result of a population bottleneck effect and certain historical factors that have increased the prevalence of specific genetic disorders among Ashkenazi Jews.

Tay Sachs disease is an autosomal recessive disorder caused by a deficiency in the enzyme hexosaminidase A. People who are carriers of the disease usually do not show symptoms, but if two carriers have a child, there is a 25% chance that their child will be affected by the disorder.

Understanding the carrier frequency helps in genetic counseling, particularly for individuals from high-risk populations such as the Ashkenazi Jewish community. It allows genetic counselors to provide accurate risk assessments and facilitate appropriate testing and reproductive options for couples who may be carriers.