title: Forensic and population genetic characteristics of 62 X chromosome SNPs revealed by multiplex PCR and MALDI-TOF mass spectrometry genotyping in 4 North Eurasian populations.
abstract: X chromosome genetic markers are widely used in basic population genetic research as well as in forensic genetics. In this paper we analyze the genetic diversity of 62 X chromosome SNPs in 4 populations using multiplex genotyping based on multi-locus PCR and MALDI-TOF mass spectrometry, and report forensic and population genetic features of the panel of X-linked SNPs (XSNPid). Studied populations represent Siberian (Buryat and Khakas), North Asian (Khanty) and Central Asian (Kazakh) native people. Khanty, Khakas and Kazakh population demonstrate average gene diversity over 0.45. Only East Siberian Buryat population is characterized by lower average heterozygosity (0.436). AMOVA analysis of genetic structure reveals a relatively low but significant level of genetic differentiation in a group of 4 population studied (FST=0.023, p=0.0000). The XSNPid panel provides a very high discriminating power in each population. The combined probability of discrimination in females (PDf) for XSNPid panel ranged between populations from 0.99999999999999999999999982 in Khakas to 0.9999999999999999999999963 in Buryats. The combined discriminating power in males (PDm) varies from 0.999999999999999792 to 0.9999999999999999819. The developed multiplex set of X chromosome SNPs can be a useful tool for population genetic studies and for forensic identity and kinship testing.
authors.affiliation: Research Institute for Medical Genetics, Nab. Ushayky 10, 634050 Tomsk, Russia; Tomsk State University, Tomsk, Russia. Electronic address: vadim.stepanov@medgenetics.ru.
authors.forename: Vadim
authors.initials: V
authors.lastname: Stepanov
authors.affiliation: Research Institute for Medical Genetics, Nab. Ushayky 10, 634050 Tomsk, Russia; Tomsk State University, Tomsk, Russia.
authors.forename: Ksenyia
authors.initials: K
authors.lastname: Vagaitseva
authors.affiliation: Research Institute for Medical Genetics, Nab. Ushayky 10, 634050 Tomsk, Russia; Tomsk State University, Tomsk, Russia.
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kharkov
authors.affiliation: Research Institute for Medical Genetics, Nab. Ushayky 10, 634050 Tomsk, Russia.
authors.forename: Anastasia
authors.initials: A
authors.lastname: Cherednichenko
authors.affiliation: Research Institute for Medical Genetics, Nab. Ushayky 10, 634050 Tomsk, Russia.
authors.forename: Anna
authors.initials: A
authors.lastname: Bocharova
authors.affiliation: Republican Scientific Centre for Obstetrics, Gynecology and Perinatology, Almaty, Kazakhstan.
authors.forename: Galina
authors.initials: G
authors.lastname: Berezina
authors.affiliation: Republican Scientific Centre for Obstetrics, Gynecology and Perinatology, Almaty, Kazakhstan.
authors.forename: Gulnara
authors.initials: G
authors.lastname: Svyatova
mesh_terms: D001209:Asia, Central; D064873:Asia, Northern; D044466:Asian People / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D053803:Forensic Genetics / Q000379:methods; D005819:Genetic Markers; D014644:Genetic Variation; D005828:Genetics, Population / Q000379:methods*; D060005:Genotyping Techniques; D060148:HapMap Project; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012800:Siberia; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods; D044465:White People / Q000235:genetics
chemical_list: D005819:Genetic Markers
keywords: MALDI-TOF mass spectrometry; Multiplex genotyping; Native North Eurasian populations; Single nucleotide polymorphisms; X chromosome