title: A study of genetic polymorphisms in mitochondrial DNA hypervariable regions I and II of the five major ethnic groups and Vedda population in Sri Lanka.
abstract: Diversity of the hypervariable regions (HV) I and II of the mitochondrial genome was studied in maternally unrelated Sri Lankans (N=202) from six ethnic groups (i.e.: Sinhalese, Sri Lankan Tamil, Muslim, Malay, Indian Tamil and Vedda). DNA was extracted from blood and buccal swabs and HVI and HVII regions were PCR amplified and sequenced. Resulting sequences were aligned and edited between 16024-16365 and 73-340 regions and compared with revised Cambridge reference sequences (rCRS). One hundred and thirty-five unique haplotypes and 22 shared haplotypes were observed. A total of 145 polymorphic sites and 158 polymorphisms were observed. Hypervariable region I showed a higher polymorphic variation than hypervariable region II. Nucleotide diversities were quite low and similar for all ethnicities apart from a slightly higher value for Indian Tamils and a much lower value for the Vedda population compared to the other groups. When the total population was considered South Asian (Indian) haplogroups were predominant, but there were differences in the distribution of phylo-geographical haplogroups between ethnic groups. Sinhalese, Sri Lankan Tamil and Vedda populations had a considerable presence of West Eurasian haplogroups. About 2/3rd of the Vedda population comprised of macro-haplogroup N or its subclades R and U, whereas macro-haplogroup M was predominant in all other populations. The Vedda population clustered separately from other groups and Sri Lankan Tamils showed a closer genetic affiliation to Sinhalese than to Indian Tamils. Thus this study provides useful information for forensic analysis and anthropological studies of Sri Lankans.
authors.affiliation: Institute of Biochemistry, Molecular Biology & Biotechnology, University of Colombo, 90 Cumaratunga Munidasa Mawatha, Colombo 03, Sri Lanka. Electronic address: ruwandiranasinghe@gmail.com.
authors.forename: Ruwandi
authors.initials: R
authors.lastname: Ranasinghe
authors.affiliation: Institute of Biochemistry, Molecular Biology & Biotechnology, University of Colombo, 90 Cumaratunga Munidasa Mawatha, Colombo 03, Sri Lanka. Electronic address: kamani@ibmbb.cmb.ac.lk.
authors.forename: Kamani H
authors.initials: KH
authors.lastname: Tennekoon
authors.affiliation: Institute of Biochemistry, Molecular Biology & Biotechnology, University of Colombo, 90 Cumaratunga Munidasa Mawatha, Colombo 03, Sri Lanka. Electronic address: erick@ibmbb.cmb.ac.lk.
authors.forename: Eric H
authors.initials: EH
authors.lastname: Karunanayake
authors.affiliation: Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Biomedical Centre, Box 815, 751 08 Uppsala, Sweden. Electronic address: maria.lembring@mail.com.
authors.forename: Maria
authors.initials: M
authors.lastname: Lembring
authors.affiliation: Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Biomedical Centre, Box 815, 751 08 Uppsala, Sweden. Electronic address: marie.allen@igp.uu.se.
authors.forename: Marie
authors.initials: M
authors.lastname: Allen
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D013188:Sri Lanka
chemical_list: D004272:DNA, Mitochondrial
keywords: Control region; HV region I; HV region II; Haplotype; Mitochondrial DNA; Sri Lanka