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Mitochondrial DNA Variability in Slovaks, with Application to the Roma Origin
Author(s) -
Malyarchuk B. A.,
Perkova M. A.,
Derenko M. V.,
Vanecek T.,
Lazur J.,
Gomolcak P.
Publication year - 2008
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.2007.00410.x
Subject(s) - haplogroup , mitochondrial dna , hypervariable region , human mitochondrial dna haplogroup , genetics , gene pool , biology , human mitochondrial genetics , haplotype , population , evolutionary biology , gene , genotype , genetic diversity , demography , sociology
Summary To gain insight into the mitochondrial gene pool diversity of European populations, we studied mitochondrial DNA (mtDNA) variability in 207 subjects from western and eastern areas of Slovakia. Sequencing of two hypervariable segments, HVS I and HVS II, in combination with screening of coding region haplogroup‐specific RFLP‐markers, revealed that the majority of Slovak mtDNAs belong to the common West Eurasian mitochondrial haplogroups (HV, J, T, U, N1, W, and X). However, a few sub‐Saharan African (L2a) mtDNAs were detected in a population from eastern part of Slovakia. In addition, about 3% of mtDNAs from eastern Slovakia encompass Roma‐specific lineages. By means of complete mtDNA sequencing we demonstrate here that the Roma‐specific M‐lineages observed in gene pools of different Slavonic populations (Slovaks, Poles and Russians), belong to Indian‐specific haplogroups M5a1 and M35. Moreover, we show that haplogroup J lineages found in gene pools of the Roma and some Slavonic populations (Czechs and Slovaks) belong to new subhaplogroup J1a, which is defined by coding region mutation at position 8460.