Screening for ZNF230 gene mutation and analysis of its correlation with azoospermia.
OBJECTIVE
To investigate the possible association between ZNF230 gene and azoospermia.


METHODS
Screening for mutation of all 6 exons of ZNF230 gene was performed by denaturing high performance liquid chromatography(DHPLC) in 99 patients with azoospermia and in 115 healthy men as controls.


RESULTS
An A-->G transition at nucleotide 316 in exon 6 was identified. There were significant differences in the distribution profiles of both allele and genotype frequencies between patient group and control group (P < 0.01 and P < 0.05, respectively). In addition,there was a statistically significant difference in the serum follicle stimulating hormone (FSH) level between the patients with GG/GA genotype and those with AA genotype (P < 0.05).


CONCLUSIONS
ZNF230 gene may be associated with azoospermia, and the A316G mutation may be correlated with the serum FSH level.
Dong
Jing-tao
JT
Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, PR China.
Zhang
Si-zhong
SZ
Ma
Yong-xin
YX
Yang
Kai-xuan
KX
Huang
Ming-kong
MK
Sun
Yan
Y
He
Guo-ping
GP
Li
Ya
Y
Zhang
Wei
W
Peng
Yan
Y
D000328:Adult; D053713:Azoospermia / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
D004268:DNA-Binding Proteins; D014157:Transcription Factors; C440989:ZNF230 protein, human