吉林省男性染色体多态与男性精液质量的相关性

Correlation between chromosomal polymorphisms and male sperm quality in population of Jilin Province

目的 分析中国吉林省男性染色体多态与男性精液质量的相关性.方法 选取2008至2013年吉林大学第一医院生殖医学中心就诊的2 584例不育患者（不育组）行体格检查、生殖激素检查、精液分析、染色体核型分析以及Y染色体微缺失检测,同时选取602名健康男性、50名核型正常的正常生育男性、50例核型正常的无精症患者以及50例核型正常的少精症患者分别作为对照组,进行比较分析.结果 染色体多态在不育组与健康男性对照组中的总体发生率差异无统计学意义[3.91％（101/2 584）比3.16％ （19/602）,P＞0.05].各常染色体多态在不育组与健康男性对照组中的发生率差异无统计学意义（均P ＞0.05）.不育组患者中,小Y染色体（Yqh-）的发生率随患者精子浓度的降低而升高,其在无精症患者中的发生率显著高于少精症患者与精子数目正常者[57.14％（21/42）比24.32％（9/37）、0（0/13）,均P＜0.05].不育组中伴染色体多态的无精症、少精症患者与核型正常的无精症、少精症对照组患者比较,睾丸大小、生殖激素水平差异均无统计学意义（均P＞0.05）.PCR扩增结果表明,32.14％ （9/28）的Y染色体变异（Yqh±）患者存在Y染色体微缺失.结论 常染色体多态与男性不育无明显相关性.但Y染色体多态可能是导致男性不育和Y染色体微缺失的重要因素.

Objective To evaluate the correlation between chromosomal polymorphisms and male sperm quality in Jilin Province.Methods A total of 2 584 male patients with infertility in Center for Reproductive Medicine,First Bethune Hospital of Jilin University from 2008 to 2013 were enrolled,which semen analysis,chromosomal analysis,Y chromosome microdeletion analysis and serum hormone levels analysis were performed.A total of 602 healthy individuals,50 fertile individuals with normal kayrotypes,50 azoospermia patients with normal kayrotypes and 50 oligospermia patients with normal kayrotypes were selected as control groups.Results There was no significant difference in the frequency of chromosome polymorphisms between infertile patients and normal control individuals （3.91% （101/2 584）vs 3.16% （19/602）,P 〉 0.05）.And there was no significant difference in the frequency of autosomal polymorphisms between infertile patients and normal control individuals（all P 〉 0.05）.The frequency of Yqh-variant was increased by the decrease of sperm count and it appeared a significantly high frequency in azoospermia patients compared with oligospermia patients and sperm count normal patients in the infertile group （57.14% （21/42） vs 24.32% （9/37）,0 （0/13）,both P 〈 0.05）.There was no significant difference in the testis volume and serum hormone levels between the infertile patients with chromosomal polymorphisms and patients in control groups with normal kayrotypes （all P 〉 0.05）.The results of PCR amplication indicated that 32.14% （9/28） patients with Yqh ± had Y chromosome microdeletion.Conclusions There is no significant correlation between autosomal polymorphisms and male infertility.But Yqh ± may be responsible for Y chromosome microdeletion and male infertility.