title: Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic founder mutation.
abstract: Uncertainty exists about the origin of BRCA1 c.4035delA mutation which is prevalent in Baltic countries, with the highest frequency being in Lithuania (53% of all BRCA1 mutations), although formal founder mutation analysis by haplotype has not yet been undertaken. In this study we genotyped 78 unrelated BRCA1 c.4035delA mutation carriers families from Lithuania, Latvia, Poland and Russia. The results from the haplotype analyses were used to estimate the age of the mutation. Using maximum likelihood methods we estimated that the mutation arose approximately 1550 years (62 generations of 25 years) ago (ca. 5th century) somewhere in the present territory of Lithuania, in the area inhabited by ancient Baltic tribes at that time. Our results show that this mutation gradually entered the gene pool in the neighboring countries.
authors.affiliation: Department of Molecular and Regenerative Medicine, Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santariškių Clinics, Santariškių st. 2, Vilnius LT-08661, Lithuania. ramunas.janavicius@santa.lt
authors.forename: Ramūnas
authors.initials: R
authors.lastname: Janavičius
authors.forename: Vilius
authors.initials: V
authors.lastname: Rudaitis
authors.forename: Bing-Jian
authors.initials: BJ
authors.lastname: Feng
authors.forename: Silvija
authors.initials: S
authors.lastname: Ozolina
authors.forename: Laimonas
authors.initials: L
authors.lastname: Griškevičius
authors.forename: David
authors.initials: D
authors.lastname: Goldgar
authors.forename: Laima
authors.initials: L
authors.lastname: Tihomirova
mesh_terms: D016000:Cluster Analysis; D018703:Founder Effect; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007844:Latvia; D016013:Likelihood Functions; D008097:Lithuania; D009154:Mutation; D011044:Poland; D012426:Russia; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D005819:Genetic Markers; C111164:BRAP protein, human; D044767:Ubiquitin-Protein Ligases