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The most common Ashkenazi genetic disease is Gaucher disease, with one out of every 10 Ashkenazi Jews carrying the mutated gene that causes the disease. Doctors classify Gaucher disease into three different types, resulting from a deficiency of glucocerebrosidase (GCase) within the body.
In the Ashkenazi Jewish population (those of Eastern European descent), it has been estimated that one in four individuals is a carrier of one of several genetic conditions. These diseases include Tay-Sachs Disease, Canavan, Niemann-Pick, Gaucher, Familial Dysautonomia, Bloom Syndrome, Fanconi anemia, Cystic Fibrosis and Mucolipidosis IV.
There are several autosomal recessive genetic disorders that are more common than average in ethnically Jewish populations, particularly Ashkenazi Jews, because of relatively recent population bottlenecks and because of consanguineous marriage (marriage of second cousins or closer). [1]
As many as 1 in 3 Ashkenazi Jews are estimated to be carriers for one of about 19 genetic diseases. Jewish genetic diseases are a group of rare autosomal recessive disorders that are far more prevalent among people with Jewish ancestry than in the general population.
An estimated 1 in 14 Ashkenazic Jews is a carrier of a mutation in the Gaucher Disease gene, which is located on chromosome #1. Although there is no cure for Gaucher Disease, there are some treatments available for managing and relieving the symptoms.
A test called an Ashkenazi Jewish (AJ) genetic panel can help let you know how likely that is. What Does This Test Check For? About 85% of Jewish Americans have an Ashkenazi Jewish background.
Individuals of Ashkenazi Jewish descent are at an increased risk for certain autosomal recessive genetic disorders. These disorders include cystic fibrosis , Canavan disease, familial dysautonomia, Tay-Sachs disease, Fanconi anemia, Niemann-Pick disease, Bloom syndrome, mucolipidosis type IV, and Gaucher disease, among others.