Carrier Frequency of the Bloom SyndromeblmMutation in the Ashkenazi Jewish Population |
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| Authors: | Lei Li Christine Eng Robert J Desnick James German Nathan A Ellis |
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| Institution: | aDepartment of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, New York, 10029;bLaboratory of Human Genetics, New York Blood Center, 310 East 67th Street, New York, New York, 10021;cDepartment of Human Genetics, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, New York, 10021 |
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| Abstract: | Bloom syndrome is more common in individuals of Ashkenazi Jewish descent than in any other population, and one particular mutation in the Bloom syndrome gene,blmAsh,is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency ofblmAshin 1491 Ashkenazi Jewish persons with no known history of Bloom syndrome and found that 1 in 107 persons was heterozygous. Although not common, genetic screening for Bloom syndrome is feasible in this population. |
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| Keywords: | Bloom syndrome Jewish genetic disease founder effect carrier screening genetic testing |
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