Mitochondrial DNA variability in Slovaks, with application to the Roma origin

Annals of Human Genetics
B A MalyarchukP Gomolcak

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.

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Citations

May 15, 2008·Molecular Biology and Evolution·B MalyarchukI Tsybovsky
Apr 28, 2010·PloS One·Boris MalyarchukIosif Tsybovsky
Jan 24, 2013·PloS One·Marta Mielnik-SikorskaTomasz Grzybowski
Jun 3, 2014·BMC Genetics·Montserrat HervellaConcepción de-la-Rua
Sep 30, 2010·American Journal of Physical Anthropology·Maria RegueiroRene J Herrera
Sep 15, 2011·American Journal of Physical Anthropology·Marijana Peričić SalihovićBranka Janićijević
Jul 25, 2013·Annals of Human Biology·Andrej ZupanDamjan Glavač
Apr 22, 2015·Homo : internationale Zeitschrift für die vergleichende Forschung am Menschen·T PłoszajH W Witas
Nov 12, 2016·BMC Evolutionary Biology·Patricia MarreroVicente M Cabrera
Apr 10, 2008·European Journal of Human Genetics : EJHG·Boris A MalyarchukJan Lazur
Jan 19, 2018·American Journal of Physical Anthropology·Lukáš ŠebestRadoslav Beňuš
Sep 17, 2015·European Journal of Human Genetics : EJHG·Begoña Martínez-CruzDavid Comas
Oct 15, 2020·Scientific Data·Shahid Y KhanS Amer Riazuddin

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