We studied a single nucleotide polymorphism (SNP) located in the human beta T-cell receptor, in association studies and different allele frequency in the two sexes. Here we report a new series of 200 subjects (100 males and 100 females) in a restricted age range, 20-30 years. We found the following results: in males 57/100 (57%) were heterozygous, 26/100 (26%) were homozygous for the two digestion fragments and 17/100 (17%) were homozygous for the 603bp fragment. Females were 44/100 (44%) heterozygous, 24/100 (24%) homozygous for the two digestion fragments and 32/100 (32%) homozygous for the 603bp fragment. The allele frequency was significantly different according to chi square analysis (X square statistic (df = 2) = 7.412; p = 0.025). Our study shows that in females, but not in males , there is a significant increase of CC homozygous status and a proportionate decrease of heterozygous status compared with Hardy-Weinberg expectations. This study could explain the controversial results obtained by association studies between this SNP (rs1800907) and autoimmune diseases made in the ninety and uncorfirmed in more recent papers. Moreover it could be a starting point to search for other autosomical DNAs diffences between the two sexes.
Different Allele Frequency between Males and Females of a SNP of the Human Beta T Cell Receptor / P. Tripputi, M. Bignotto. - In: ADVANCED STUDIES IN BIOLOGY. - ISSN 1313-9495. - 4:11(2012), pp. 521-528.
|Titolo:||Different Allele Frequency between Males and Females of a SNP of the Human Beta T Cell Receptor|
TRIPPUTI, PASQUALE (Primo)
BIGNOTTO, MONICA (Ultimo)
|Parole Chiave:||DNA ; Gender ; Linkage disequilibrium ; Polymorphism ; T cell receptor|
|Settore Scientifico Disciplinare:||Settore MED/01 - Statistica Medica|
Settore BIO/18 - Genetica
|Data di pubblicazione:||2012|
|Appare nelle tipologie:||01 - Articolo su periodico|