title: Different allelic distribution of a single SNP between sexes in humans.
abstract: 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 (chi2 = 8.799, P = 0.012).
authors.affiliation: Department of Medicine, Surgery, and Dentistry, University of Milan, Milan, 20142, Italy. pasquale.tripputi@unimi.it
authors.forename: P
authors.initials: P
authors.lastname: Tripputi
authors.forename: D
authors.initials: D
authors.lastname: Cigognini
authors.forename: S
authors.initials: S
authors.lastname: Bianchi
authors.forename: L
authors.initials: L
authors.lastname: Fedele
mesh_terms: D000328:Adult; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000235:genetics*
chemical_list: D016693:Receptors, Antigen, T-Cell, alpha-beta