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目的:研究卵泡刺激素受体(FSHR)基因Thr307Ala(rs6165)和Asn680Ser(rs6166)单核苷酸多态性(SNP)基因型分布情况及其与中国长三角地区重度少弱精子症的关联性。方法:外周血提纯DNA,PCR扩增后直接测序分析200名已育男性(已生育组)和150名重度少弱精子症不育男性(不育组)FSHR基因Thr307Ala和Asn680Ser位点的SNP,并用χ2检验进行相关性分析。结果:FSHR基因Thr307Ala和Asn680Ser多态性位点的基因型分布在已生育组和不育组间无统计学差异(P>0.05)。Thr-Asn/Ala-Asn和Thr-Ser/Thr-Ser双倍型在已育男性与重度少弱精子症患者间分布差异有统计学意义(P<0.05),组间FSHR的单倍型Thr-Asn和Ala-Asn之间亦有统计学差异(P<0.05)。结论:FSHR基因Thr307Ala和Asn680Ser的2个多态性位点特定的单倍型和双倍型与男性不育有一定的相关性。
Objective: To study the distribution of the single nucleotide polymorphisms (SNP) of Thr307Ala (rs6165) and Asn680Ser (rs6166) in the follicle stimulating hormone receptor (FSHR) gene and its association with severe oligozoospermia in the Yangtze River Delta of China . Methods: DNA was purified from peripheral blood. The SNPs of Thr307Ala and Asn680Ser in FSHR gene of 200 infertile men (fertile group) and 150 severe oligozoospermic male infertile men (infertile group) were directly sequenced by PCR. And χ2 test for correlation analysis. Results: The distribution of genotypes of Thr307Ala and Asn680Ser polymorphisms in FSHR gene was not significantly different between fertile and infertile groups (P> 0.05). There were significant differences in Thr-Asn / Ala-Asn and Thr-Ser / Thr-Ser double haplotype distribution between fertile men and severe asthenospermia patients (P <0.05) There was also a statistically significant difference between -Asn and Ala-Asn (P <0.05). Conclusion: The two haplotypes and the double haplotypes of FSHR gene Thr307Ala and Asn680Ser are associated with male infertility.