What is the carrier frequency of Bloom Syndrome in Ashkenazi Jews?

The carrier frequency of Bloom Syndrome among Ashkenazi Jews is indeed 1 in 34. This condition is associated with mutations in the BLM gene, which is part of the class of disorders known as DNA repair syndromes. Studies have shown that the frequency of carriers for this syndrome is higher in Ashkenazi Jews due to a founder effect, where a small number of ancestors contributed disproportionately to the gene pool of this population.

In general, carrier frequencies for genetic disorders can vary significantly across different ethnic groups due to historical population bottlenecks, migration patterns, and genetic drift. For Bloom Syndrome specifically, the 1 in 34 figure reflects the increased prevalence in this group, making it essential for genetic counselors to be aware of these statistics when offering screening and counseling services to Ashkenazi Jewish individuals or couples considering family planning. Understanding these frequencies aids in risk assessment and informed decision-making regarding genetic testing options.