The 1100delAT BRCA1 and the 8765delAG BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers
| Autor: | Shlomit Eisenberg-Barzilai, Daniel A. Haber, Jamal Zidan, Ruth Gershoni Baruch, Eitan Friedman, Efrat Dagan, Inbar Gal |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Cancer Research Heterozygote endocrine system diseases Molecular Sequence Data Black People Breast Neoplasms Biology Polymerase Chain Reaction Risk Assessment law.invention Cohort Studies Mutation Carrier law Genetics Humans Genetic Predisposition to Disease Genetic Testing Israel skin and connective tissue diseases Genotyping Genetics (clinical) Polymerase chain reaction Germ-Line Mutation Aged Aged 80 and over BRCA2 Protein Base Sequence BRCA1 Protein Haplotype Middle Aged Ashkenazi jews Human genetics Pedigree Oncology Haplotypes Jews Mutation (genetic algorithm) Female Genetic isolate |
| Zdroj: | Familial cancer. 3(1) |
| ISSN: | 1389-9600 |
| Popis: | Few mutations have been described in BRCA1 and BRCA2 in high-risk non-Ashkenazi Jews. In a Libyan family the 1100delAT BRCA1 mutation was detected and the 8765delAG BRCA2 mutation was previously described in two Jewish-Yemenite-families. In this study, the rate of these mutations in high-risk Jews of North African and Yemenite origin was assessed, and the BRCA1 -linked haplotype of Jewish and non-Jewish 1100delAT mutation carriers were compared. Genotyping included 64 high-risk Yemenite women (tested only for the BRCA 2 mutation) and 147 high-risk North African women, tested for both mutations. PCR amplification was followed by either restriction enzyme digestion or DGGE or dHPLC analyses and direct sequencing. For haplotyping, 5 BRCA1 -linked markers were used. Neither the 1100delAT BRCA1 nor the 8765delAG BRCA2 mutations were detected in any non-Ashkenazi individual. The haplotype of the non-Jewish 1100delAG mutation carrier differed from that of the Jewish-Libyan mutation carriers. We conclude that both1100delAT BRCA1 and 8765delAG BRCA2 mutations occur rarely in high-risk non-Ashkenazi Jews, and while the latter seems to be a founder mutation in some populations, the former occurs on a different background in ethnically diverse families. |
| Databáze: | OpenAIRE |
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