Jewish genetic disease

Any genetic disease that is more common in Jewish populations, especially the Ashkenazi subgroup, due to high rates of endogamy. Most are autosomal recessive and present in childhood. The American College of Medical Genetics recommends routine pre-conceptual or prenatal carrier screening for 9 diseases (Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anaemia group C, Gaucher disease, mucolipidosis IV, Niemann-Pick disease type A and Tay-Sachs disease), which are common in Jews of eastern European (Ashkenazi) descent.
Jewish (Ashkenazim) Genetic Diseases
Disease—Incidence—Carrier rate
Gaucher disease—1/900—1/15
Cystic fibrosis—1/2,800—1/29
Tay-Sachs disease—1/3,000—1/30
Familial dysautonomia—1/3,600—1/32
Canavan disease—1/10,000—1/50
Fanconi anemia group C—1/32,000—1/89
Niemann-Pick, type A—1/32,000—1/90
Bloom syndrome—1/40,000—1/100
Mucolipidosis IV—1/63,000—1/127

单词	jewish genetic disease
释义	Jewish genetic disease Jewish genetic disease Any genetic disease that is more common in Jewish populations, especially the Ashkenazi subgroup, due to high rates of endogamy. Most are autosomal recessive and present in childhood. The American College of Medical Genetics recommends routine pre-conceptual or prenatal carrier screening for 9 diseases (Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anaemia group C, Gaucher disease, mucolipidosis IV, Niemann-Pick disease type A and Tay-Sachs disease), which are common in Jews of eastern European (Ashkenazi) descent. Jewish (Ashkenazim) Genetic Diseases Disease—Incidence—Carrier rate Gaucher disease—1/900—1/15 Cystic fibrosis—1/2,800—1/29 Tay-Sachs disease—1/3,000—1/30 Familial dysautonomia—1/3,600—1/32 Canavan disease—1/10,000—1/50 Fanconi anemia group C—1/32,000—1/89 Niemann-Pick, type A—1/32,000—1/90 Bloom syndrome—1/40,000—1/100 Mucolipidosis IV—1/63,000—1/127
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