Different allelic distribution of a single SNP between sexes in humans

P. Tripputi, D. Cigognini, S. Bianchi, L. Fedele

Research output: Contribution to journalArticlepeer-review


We searched for a difference in allele distribution between males and females of a single nucleotide polymorphism located in the human beta T-cell receptor, in 500 subjects (200 males and 300 females). Genotype analysis gave the following results: among the males, 114 (57%) were heterozygous for the T/C polymorphism, 52 (26%) were homozygous (T/T), and 34 (17%) were homozygous (C/C). Among the females, 142 (47.3%) were heterozygous, 73 (24.3%) were homozygous (T/T), and 85 (28.3%) were homozygous (C/C). The allele frequency was significantly different between sexes (χ 2 = 8.799, P = 0.012).

Original languageEnglish
Pages (from-to)733-736
Number of pages4
JournalBiochemical Genetics
Issue number11-12
Publication statusPublished - Dec 2008


  • DNA
  • Gender
  • Linkage disequilibrium
  • Polymorphism
  • T-cell receptor

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology
  • Ecology, Evolution, Behavior and Systematics


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