Carrier frequency of the Bloom syndrome blm(Ash) mutation in the Ashkenazi Jewish population Journal Article
| Authors: | Li, L.; Eng, C.; Desnick, R. J.; German, J.; Ellis, N. A. |
| Article Title: | Carrier frequency of the Bloom syndrome blm(Ash) mutation in the Ashkenazi Jewish population |
| 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, blm(Ash), is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency of blm(Ash) 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. |
| Keywords: | mutation; gene frequency; base sequence; dna primers; genetic screening; founder effect; jews; adenosine triphosphatases; dna helicases; genetic testing; heterozygote detection; jew; bloom syndrome; humans; human; priority journal; article; carrier screening; jewish genetic disease |
| Journal Title: | Molecular Genetics and Metabolism |
| Volume: | 64 |
| Issue: | 4 |
| ISSN: | 1096-7192 |
| Publisher: | Academic Press |
| Date Published: | 1998-08-01 |
| Start Page: | 286 |
| End Page: | 290 |
| Language: | English |
| DOI: | 10.1006/mgme.1998.2733 |
| PUBMED: | 9758720 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Export Date: 12 December 2016 -- Source: Scopus |
