The 4154delA mutation carriers in the BRCA1 gene share a common ancestry.
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.
Ozolina
Silvija
S
Latvian Biomedical Research and Study Centre, Ratsupites str. 1, Riga, 1067, Latvia.
Sinicka
Olga
O
Jankevics
Eriks
E
Inashkina
Inna
I
Lubinski
Jan
J
Gorski
Bohdan
B
Gronwald
Jacek
J
Nasedkina
Tatyana
T
Fedorova
Olga
O
Lyubchenko
Ludmila
L
Tihomirova
Laima
L
D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007844:Latvia; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D011044:Poland; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D012426:Russia