An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations

M Kayser, M Krawczak, L Excoffier, P Dieltjes, D Corach, Vincenzo Lorenzo Pascali, C Gehrig, Lf Bernini, J Jespersen, E Bakker, L Roewer, P. De Knijff

Risultato della ricerca: Contributo in rivistaArticolo in rivista

171 Citazioni (Scopus)


The genetic variance at seven Y-chromosomal microsatellite loci (or short tandem repeats [STRs]) was studied among 986 male individuals from 20 globally dispersed human populations. A total of 598 different haplotypes were observed, of which 437 (73.1%) were each found in a single male only. Population-specific haplotype-diversity values were .86-.99. Analyses of haplotype diversity and population-specific haplotypes revealed marked population-structure differences between more-isolated indigenous populations (e.g., Central African Pygmies or Greenland Inuit) and more-admixed populations (e.g., Europeans or Surinamese). Furthermore, male individuals from isolated indigenous populations shared haplotypes mainly with male individuals from their own population. By analysis of molecular variance, we found that 76.8% of the total genetic variance present among these male individuals could be attributed to genetic differences between male individuals who were members of the same population. Haplotype sharing between populations, Φ ST statistics, and phylogenetic analysis identified close genetic affinities among European populations and among New Guinean populations. Our data illustrate that Y-chromosomal STR haplotypes are an ideal tool for the study of the genetic affinities between groups of male subjects and for detection of population structure.
Lingua originaleEnglish
pagine (da-a)990-1018
Numero di pagine29
RivistaAmerican Journal of Human Genetics
Stato di pubblicazionePubblicato - 2001


  • DNA determination
  • gene frequency
  • genetic screening
  • microsatellite instability
  • single nucleotide polymorphism
  • tandem repeat


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