贵州地区非阻塞性无精症与SIRPA-SIRPG基因rs6080550多态性的相关性

Correlation Between Non-obstructive Azoospermia and SIRPA-SIRPG Gene rs6080550 Polymorphism in Guizhou Population

目的:研究贵州地区非阻塞性无精症患者与正常男性健康对照人群SIRPA-SIRPG基因单核苷酸多态性(SNP)位点rs6080550基因分型,探讨该位点的基因多态性与非阻塞性无精症的相关性。方法:以贵州地区临床确诊的非阻塞性无精症患者(病例组)及男性健康体检人群(对照组)为研究对象,酚氯仿抽提法提取全血基因组DNA,Taq Man-MGB探针实时荧光定量PCR对SIRPA-SIRPG基因rs6080550位点基因分型,比较两组受检者SIRPA-SIRPG基因rs6080550位点基因型及等位基因频率,同时分析该位点的多态性与贵州地区非阻塞性无精症的相关性。结果:疾病组TT基因型及T等位基因频率均显著高于对照组(P <0. 05),携带rs6080550 TT基因型可能增加人群中非阻塞性无精症的患病风险(OR=13. 52,P <0. 05)。结论:rs6080550位点多态性与贵州人群非阻塞无精症可能相关,携带SIRPA-SIRPG基因rs6080550位点TT基因型可能增加非阻塞性无精症的患病风险。

Objective:To investigate the single nucleotide polymorphism(SNP)locus rs6080550 genotyping of SIRPA-SIRPG gene in non-obstructive azoospermia patients and healthy controls in Guizhou area,and to explore the relationship between rs6080550 polymorphism and non-obstructive azoospermia.Methods:Patients with non-obstructive azoospermia(case group)and healthy men(control group)were selected as subjects.The phenol-chloroform extraction method was used to extract the whole blood genomic DNA,and TaqMan-MGB probe real-time fluorescence quantitative PCR was used to type the rs6080550 locus of SIRPA-SIRPG gene.The genotype and allelic frequency of rs6080550 locus of SIRPA-SIRPG gene were compared between the two groups.At the same time,the relationship between the polymorphism of this locus and non-obstructive azoospermia in Guizhou population was analyzed.Results:The frequency of TT genotype and T allele in the case group were significantly higher than those in control group(P<0.05).Carrying rs6080550 TT genotype may increase the risk of non-obstructive azoospermia(OR=13.52,P<0.05).Conclusion:Rs6080550 polymorphism may be associated with non-obstructive azoospermia in Guizhou population.The TT genotype carrying rs6080550 locus of SIRPA-SIRPG gene may increase the risk of non-obstructive azoospermia.