[Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia].
OBJECTIVE
To 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.


METHODS
Possible 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.


RESULTS
The 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.


CONCLUSIONS
278A 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.
Zhang
Wei
W
Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041 PR China.
Zhang
Si-zhong
SZ
Xiao
Cui-ying
CY
Yang
Yuan
Y
Ma
Yong-xin
YX
Cheng
Li
L
A
Zhou-cun
ZC
He
Guo-ping
GP
Shi
Jia-jun
JJ
D053713:Azoospermia / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D022021:Tacrolimus Binding Proteins / Q000235:genetics*
C115725:FKBP6 protein, human; D022021:Tacrolimus Binding Proteins