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目的探讨男性不育患者Y染色体微缺失的分布和生殖激素水平的变化,分析其相关性。方法选取2015年8月-2016年7月就诊于我院生殖医学中心的男性不育患者717例,抽取外周血清,采用荧光定量PCR方法检测Y染色体微缺失,化学发光仪检测生殖激素水平。同时选取80例正常生育男性为对照组。结果 717例男性不育患者中,共有27例出现Y染色体微缺失,缺失率为3.8%(27/717),其中AZFa区缺失1例,缺失率为0.14%(1/717),AZFb区缺失1例,缺失率为0.14%(1/717),AZFc区缺失23例,缺失率为3.2%(23/717),AZFb+c区缺失2例,缺失率为0.28%(2/717)。与无AZF缺失不育组和对照组比较,AZF缺失不育组FSH水平显著升高(P<0.05),E2、LH、PRL和T无明显差异(P>0.05)。结论 AZFc区缺失是男性不育患者Y染色体微缺失最常见的缺失类型,缺失位点为s Y254和s Y255;FSH水平增高与AZF缺失不育密切相关。
Objective To investigate the distribution of Y chromosome microdeletions and the changes of reproductive hormones in male infertility patients and analyze their correlations. Methods A total of 717 infertile patients with male infertility were enrolled in the Reproductive Medicine Center of our hospital from August 2015 to July 2016. Peripheral blood serum was extracted. Y chromosome microdeletion was detected by fluorescence quantitative PCR and the level of reproductive hormone was detected by chemiluminescence analyzer. At the same time select 80 normal fertile men as the control group. Results Among 717 cases of male infertility, 27 cases had Y chromosome microdeletion with a deletion rate of 3.8% (27/717), of which 1 case was deleted in AZFa region, the deletion rate was 0.14% (1/717), the deletion of AZFb region One case had a deletion rate of 0.14% (1/717). There were 23 cases of AZFc deletion, with a deletion rate of 3.2% (23/717). There were 2 cases of AZFb + c deletion and a deletion rate of 0.28% (2/717). The levels of FSH in AZF deficient infertility group were significantly higher than those without AZF deficiency infertility group and the control group (P <0.05). There was no significant difference in E2, LH, PRL and T (P> 0.05). Conclusion The deletion of AZFc is the most common type of Y chromosome deletion in male infertility. The deletion sites are s Y254 and s Y255. The increased FSH level is closely related to the deletion of AZF.