GSTM1、GSTT1缺失和GSTP1基因多态性与原发无精症的相关性研究

Association between glutathione-S-transferase gene polymorphisms （GSTM1, GSTT1 , GSTP1 ） and idiopathicazoospermia

目的探讨谷胱甘肽硫转移酶（glutathioneS-transferase，GST）基因家族中GSTM1、GSTT1缺失和GSTP1多态性与汉族人群原发性无精子症的相关性。方法采用病例一对照研究的方法，应用多重PCR及PCR-限制性片段长度多态性技术检测236例汉族原发无精症患者和142名正常生育男性的GSTMl、GSTTl基因缺失和GSTPl基因（Ile／Val）多态性。结果M1（-／-）和P1（Ile／Val或Val／Val）联合基因型在对照组中分布为24．65％（35／142），高于病例组的15．68％（37／236），差异有统计学意义（P=0．031）；M1（-／-），T1（＋／＋）和P1（Ile／Val或Val／Val）联合基因型在对照组中分布为12．68％（18／142），高于病例组的5．51％（13／236），差异有统计学意义（P=0．014）。结论M1（-／-）和Pl（Ile／Val或Val／Val）联合基因型以及M1（-／-），T1（＋／＋）和P1（11e／Val或Val／Val）联合基因型可能降低男性患无精症的风险。

Objective To assess the association between glutathione S transferase gene polymorphisms GSTT1 , GSTM1 and GSTP1 and onset of azoospermia. Methods Multi-PCR was used to detect GSTM1 and GSTT1 gene deletions. Polymorphisms of GSTP1 were determined with restriction fragment length polymorphism （RFLP） method in 236 azoospermia patients and 142 healthy fertile male controls. Results The frequency of M1 （-/--） and Pl （Ile/Val or Val/Val） genotype was 24.65 % in the control group, which was significantly higher than that of the patient group （15. 68%, P 0. 031）. Frequency of M1 （--/--）, T1 （＋/＋） and P1 （Ile/Val or Val/Val） genotype was 12.68% in the control group, which was significantly higher than that of the patient group （5. 51%, P 0. 014）. Conclusion The MI（ /--） and Pl（Ile/Valor Val/Val） genotypeand theMl（--/--）, TI（＋/＋） andP1 （Ile/Valor Val/Val） genotype are associated with reduced risk of azoospermia in ethnic Chinese Han population.