title: Mitochondrial and Y-chromosomal profile of the Kazakh population from East Kazakhstan.
abstract: OBJECTIVE
  To study the genetic relationship of Kazakhs from East Kazakhstan to other Eurasian populations by examining paternal and maternal DNA lineages.
  
  
  METHODS
  Whole blood samples were collected in 2010 from 160 unrelated healthy Kazakhs residing in East Kazakhstan. Genomic DNA was extracted with Wizard genomic DNA Purification Kit. Nucleotide sequence of hypervariable segment I of mitochondrial DNA (mtDNA) was determined and analyzed. Seventeen Y-short tandem repeat (STR) loci were studied in 67 samples with the AmpFiSTR Y-filer PCR Amplification Kit. In addition, mtDNA data for 2701 individuals and Y-STR data for 677 individuals were retrieved from the literature for comparison.
  
  
  RESULTS
  There was a high degree of genetic differentiation on the level of mitochondrial DNA. The majority of maternal lineages belonged to haplogroups common in Central Asia. In contrast, Y-STR data showed very low genetic diversity, with the relative frequency of the predominant haplotype of 0.612.
  
  
  CONCLUSIONS
  The results revealed different migration patterns in the population sample, showing there had been more migration among women. mtDNA genetic diversity in this population was equivalent to that in other Central Asian populations. Genetic evidence suggests the existence of a single paternal founder lineage in the population of East Kazakhstan, which is consistent with verbal genealogical data of the local tribes.
authors: National Center for Biotechnology of Republic of Kazakhstan, 13/1 Valikhanov Street, 010000 Astana, Kazakhstan. avel.tarlykov@gmail.com
authors: Pavel V
authors: PV
authors: Tarlykov
authors: Elena V
authors: EV
authors: Zholdybayeva
authors: Ainur R
authors: AR
authors: Akilzhanova
authors: Zhannur M
authors: ZM
authors: Nurkina
authors: Zhaxylyk M
authors: ZM
authors: Sabitov
authors: Tolebay K
authors: TK
authors: Rakhypbekov
authors: Erlan M
authors: EM
authors: Ramanculov
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005788:Gene Pool; D014644:Genetic Variation; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D007623:Kazakhstan; D018895:Microsatellite Repeats; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial