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首页> 外文期刊>Genetic testing and molecular biomarkers >Haplotype of the 061 G BRCA 1 Mutation in Polish and Jewish Individuals
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Haplotype of the 061 G BRCA 1 Mutation in Polish and Jewish Individuals

机译：061克的单体型brca1基因突变在波兰和犹太人的个人

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摘要

Recurring mutations in the BRCA1 gene are noted in some populations and represent either founder mutations or a mutational hot spot. The С61G*ВRСА1 (с.181Т>G) missense mutation is a pathogenic one commonly reported in Polish individuals. A Jewish non-Ashkenazi family (of Italian ancestry) was found to carry this mutation, and the present study aimed at evaluating whether this mutation represents a founder mutation or a mutational hot spot. To that end, multilocus allelotyping using five markers intragenic to and flanking the BRCA1 gene spanning a genomic region of —1.5 Mbp was carried out in that family and in 20 unrelated Polish С61G*BRСА1 mutation carriers. Phasing was done using affected and unaffected Jewish family members. The alleles that compose the pathogenic, mutation-carrying intragenic BRCA1 haplotype of the Jewish mutation carriers were detected in 18/20 Polish mutation carriers. The two flanking markers farthest away showed more diversity, between and even within Polish individuals. In conclusion, the *BRCA1 missense mutation is a founder mutation that can be detected in geographically related populations.
机译：反复出现在BRCA1基因的突变一些人口和代表创始人变异或突变热点。С61 G *ВRСА1(с.181Т> G)错义突变致病的一个通常在波兰个人。意大利血统)被发现携带突变,本研究旨在评估是否代表了这种突变创始人变异或突变热点。最后,茎使用5个等位型标记基因内侧翼BRCA1基因生成一个基因组区域-1.5 Mbp进行在家庭和20波兰无关С61 g * BRСА1突变携带者。使用影响和犹太家庭的影响成员。mutation-carrying基因内BRCA1基因单体型犹太人的突变携带者被检测到18/20波兰突变携带者。标记显示更多的多样性,最远甚至在波兰个人之间。结论,* BRCA1错义突变能被探测到的创始者突变地理位置相关的人群。

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