The 4154delA mutation carriers in the BRCA1 gene share a common ancestry
- 129 Downloads
Uncertainty exists whether the 4154delA mutation of the BRCA1 gene detected in unrelated individuals from Latvia, Poland and Russia is a founder mutation with a common ancestral origin. To trace back this problem we analysed the mutation-associated haplotype of the BRCA1 intragenic SNPs as well as intragenic and nearby STR markers in mutation carriers from the aforementioned populations. The mutation-associated SNP alleles were found to be “T-A-A-A-A-G” for six intragenic SNPs of the BRCA1 gene (IVS8-58delT, 3232A/G, 3667A/G, IVS16-68A/G, IVS16-92A/G, IVS18+66G/A, respectively). The alleles 195, 154, 210 and 181 were found to be associated with the 4154delA mutation for STR markers D17S1325, D17S855, D17S1328 and D17S1320, correspondingly. Further analysis of markers in the 4154delA mutation carriers from all three populations allows us to assert that all analysed mutation carriers share a common ancestry.
KeywordsBRCA1 Mutation Haplotype SNP STR Alleles
The authors thank all patients who donated blood samples and filled in our questionnaires. We are grateful to Prof. E. Grens and Dr. J. Klovins for making available DNA samples and patients’ information from the Genome Database of the Latvian Population and Kristine Viksne for DNA isolation. This research was supported by the Collaborative project Nr. 05.23.04.1 funded by the Latvian Science Council. Entries in databases: BIC Database: http://research.nhgri.nih.gov/bic/. UniSTS Database: http://www.ncbi.nlm.nih.gov/sites/entrez?db=Unists.