The 4154delA mutation carriers in the BRCA1 gene share a common ancestry
Silvija Ozolina, Olga Sinicka, Eriks Jankevics, Inna Inashkina, Jan Lubinski, Bohdan Gorski, Jacek Gronwald, Tatyana Nasedkina, Olga Fedorova, Ludmila Lyubchenko, Laima Tihomirova
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.