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Ashkenazi Jews

From SNPedia

The ethnic and religious group known as the Ashkenazi Jews has been extensively studied for diseases occuring at higher frequencies compared to non-Jewish groups. These diseases include:

Many of these diseases are inherited in an autosomal recessive manner, meaning that carriers are not affected; a child does not develop the disease unless he or she inherits the risk allele from both parents.

Because some risk alleles appear at a high frequency among Ashkenazi Jews, the American College of Medical Genetics and the American College of Obstetricians and Gynecologists have recommended that individuals of AJ descent undergo carrier screening (and genetic counseling as necessary) for Tay Sachs disease, Canavan disease, familial dysautonomia, mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia type C, Bloom syndrome, and Gaucher disease. About a third of the Ashkenazi Jews in the New York City area carry at least one of the 16 primarily Jewish genetic diseases for which testing was available in 2010 [1].

Carrier frequencies for conditions appearing at relatively high frequency in Ashkenazi Jews are shown below, compiled from different sources including [2],[3] and [4]:

Medical Condition / Topic Carrier Frequency, 1 in Incidence, 1 in
Bloom syndrome 134 40000
Canavan disease 55 13000
Cystic fibrosis 23 4000
Dihydrolipoamide dehydrogenase deficiency 107 46000
Familial dysautonomia 31 3700
Familial hyperinsulinism 68 7800
Fanconi anemia group C 100 40000
Gaucher disease 15 855
Glycogen storage disease type 1A 64 20000
Joubert syndrome 2 90 40000
Maple Syrup Urine Disease 97 40000
Mucolipidosis type IV 90 40000
Nemaline myopathy 168 50000
Niemann-Pick disease type A/B 115 40000
Spinal muscular atrophy 67 10000
Tay-Sachs disease 27 3600
Usher syndrome type 1F 147 31000
Usher syndrome type III 120 57000
Walker-Warburg syndrome 150 90000