Li L, Eng C, Desnick R J, German J, Ellis N A
Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, New York 10029, USA.
Mol Genet Metab. 1998 Aug;64(4):286-90. doi: 10.1006/mgme.1998.2733.
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 of blmAsh in 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.
布卢姆综合征在阿什肯纳兹犹太裔个体中比在其他任何人群中更为常见，布卢姆综合征基因中的一种特定突变，即blmAsh，在几乎所有患有布卢姆综合征的阿什肯纳兹犹太人中都是纯合的。我们已经确定了1491名无布卢姆综合征已知病史的阿什肯纳兹犹太人中blmAsh的频率，发现每107人中有1人是杂合子。尽管并不常见，但在这一人群中对布卢姆综合征进行基因筛查是可行的。
