What is the estimated carrier frequency of Gaucher disease among Ashkenazi Jews?

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The estimated carrier frequency of Gaucher disease among Ashkenazi Jews is typically reported as approximately 1 in 18 individuals. This increased frequency is attributed to a combination of genetic drift, founder effects, and the close-knit nature of the Ashkenazi Jewish population, which has led to a higher incidence of certain genetic conditions, including Gaucher disease.

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase. Carrier status often does not present with symptoms, which can lead to an underestimation of the frequency unless specific genetic testing is performed, particularly in populations with a known increased risk such as the Ashkenazi Jewish community.

The other options listed do not reflect the most current and widely accepted statistical estimates regarding carrier frequency for this specific population.

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