Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia.
- Author:
Wei ZHANG
1
;
Si-zhong ZHANG
;
Cui-ying XIAO
;
Yuan YANG
;
Yong-xin MA
;
Li CHENG
;
Zhou-cun A
;
Guo-ping HE
;
Jia-jun SHI
Author Information
- Publication Type:Journal Article
- MeSH: Azoospermia; genetics; Chromatography, High Pressure Liquid; Gene Frequency; Genetic Predisposition to Disease; genetics; Genotype; Humans; Male; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Tacrolimus Binding Proteins; genetics
- From: Chinese Journal of Medical Genetics 2005;22(1):10-13
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate 2 polymorphism sites in exon 3 and intron 2 of FKBP6 in Chinese population, while screening the gene mutations and polymorphisms in exons 3, 4 of FKBP6, and the association of these polymorphisms with azoospermia.
METHODSPossible variations of exons 3, 4 and genotypes and frequencies of 2 polymorphic loci were examined by denaturing high-performance liquid chromatography(DHPLC) and PCR-restriction fragment length polymorphism(PCR-RFLP) technique in 177 azoospermia patients and 231 control individuals.
RESULTSThe observed allele frequencies conformed well to Hardy-Weinberg equilibrium. The frequency of 278A allele was significantly higher in controls than that in patients (P<0.05). C/T(s7797242) polymorphism was not found in either group and variations in exons 3, 4 were not detected.
CONCLUSION278A polymorphism of FKBP6 gene was associated with idiopathic azoospermia, while C/T, 370G/A, 430G/C, 467T/C, 468G/A polymorphisms might be very rare in Chinese population.
