Genetic relationships among Japanese, Northern Han, Hui, Uygur, Kazakh, Greek, Saudi Arabian, and Italian populations based on allelic frequencies at four VNTR (D1S80, D4S43, COL2A1,D17S5) and one STR (ACTBP2) loci

Yoshihiko Katsuyama, Hidetoshi Inoko, Tadashi Imanishi, Nobuhisa Mizuki, Takashi Gojobori, Masao Ota*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


The genetic polymorphism at four variable number of tandem repeats (D1S80, D4S43, COL2A1, D17S5) and one short tandem repeat (ACTBP2) loci was assessed by polymerase chain reaction analysis of genomic DNA obtained from blood samples of eight human populations (Japanese, Northern Han, Hui, Uygur, Kazakh, Saudi Arabian, Creek, Italian). Allele frequencies at all loci were in the Hardy-Weinberg equilibrium for each population. With the exception of ACTBP2, the allelic distribution patterns for these loci revealed a marked genetic divergence among the eight populations. A dendrogram constructed by the neighbor-joining method based on the allele frequencies of the five loci suggested that the five Asian populations (Japanese, Northern Han, Hui, Uygur, and Kazakh) formed one cluster, whereas the two European populations and one West Asian population (Italian, Greek, and Saudi Arabian) formed another. The genetic relationship among these populations may have been greatly influenced by admixture as a result of the migration of individuals along the Silk Road throughout history.

Original languageEnglish (US)
Pages (from-to)126-137
Number of pages12
JournalHuman Heredity
Issue number3
StatePublished - May 1 1998


  • Asian populations
  • DNA polymorphism
  • Dendrogram
  • Short tandem repeat
  • Variable number of tandem repeat

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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