SPO11 基因单核苷酸多态性与中国汉族男性特发性不育的关联研究。
An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population.
机构信息
Department of Pathology, Medical School, Xi'an Jiaotong University, Xi'an, 710061, China.
出版信息
J Assist Reprod Genet. 2011 Aug;28(8):731-6. doi: 10.1007/s10815-011-9571-3. Epub 2011 May 10.
PURPOSE
To investigate the incidence of single nucleotide polymorphisms in SPO11 and its influence in idiopathic male infertility in China.
METHODS
Infertility factors such as anatomical, immunological and infectious disorders were examined in selecting patients with idiopathic male infertility. Routine semen analysis was performed. DNA was isolated from peripheral blood of the selected patients and control group, and five SNP loci of SPO11 were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Furthermore, nucleotide sequences were sequenced.
RESULTS
SNP5 (rs28368082) in the exon7 of SPO11 was identified to be associated with idiopathic male infertility (P = 0.037 for differences across genotypes). A transversion (C5679T) was detected in eight patients (11.0%), which led arginine change into tryptophan. And this variant was not found in the remaining patients and controls.
CONCLUSION
A SPO11 SNP was associated with idiopathic male reproduction, suggested that SPO11 might has an effect on premorbid functioning, which increase susceptibility for idiopathic male reproduction. Further research on this issue is still necessary.
目的
研究 SPO11 单核苷酸多态性在中国特发性男性不育症中的发生率及其影响。
方法
在选择特发性男性不育症患者时，检查了解剖学、免疫学和感染性疾病等不育因素。进行了常规精液分析。从选定的患者和对照组的外周血中分离 DNA，并使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析对 SPO11 的五个 SNP 位点进行基因分型。此外，还对核苷酸序列进行了测序。
结果
SPO11 外显子 7 中的 SNP5（rs28368082）与特发性男性不育症相关（基因型之间的差异 P=0.037）。在 8 名患者（11.0%）中检测到转换（C5679T），导致精氨酸变为色氨酸。在其余患者和对照组中未发现该变体。
结论
SPO11 SNP 与特发性男性生殖力相关，表明 SPO11 可能对潜在功能有影响，从而增加特发性男性生殖力的易感性。仍需要对此问题进行进一步研究。
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