title: Mitochondrial DNA variability in Slovaks, with application to the Roma origin.
abstract: 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.
authors.affiliation: Institute of Biological Problems of the North, Russian Academy of Sciences, Portovaya str. 18, Magadan, Russia. malyarchuk@ibpn.ru
authors.forename: B A
authors.initials: BA
authors.lastname: Malyarchuk
authors.forename: M A
authors.initials: MA
authors.lastname: Perkova
authors.forename: M V
authors.initials: MV
authors.lastname: Derenko
authors.forename: T
authors.initials: T
authors.lastname: Vanecek
authors.forename: J
authors.initials: J
authors.lastname: Lazur
authors.forename: P
authors.initials: P
authors.lastname: Gomolcak
mesh_terms: D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D014644:Genetic Variation; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D010802:Phylogeny; D012150:Polymorphism, Restriction Fragment Length; D011157:Population Dynamics; D006178:Romani People / Q000235:genetics*; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial