男性不育症与Y染色体多态性和微缺失关系探讨

Study on the relationship between male infertility and Y chromosome polymorphism and microdeletion

目的探讨男性外周血Y染色体多态性核型和微缺失与男性不育症的关系。方法选取2015年1月-2018年6月在我院就诊的242例男性不育患者行外周血染色体核型分析和Y染色体微缺失检测。结果 242例男性不育症患者中检出Y染色体多态性核型13例,发生率5.37%,包括下列3种类型:(1)46,XY(Y≥18)共7例,发生率2.89%;(2)46,XY(Y≤21)共5例,发生率2.07%;(3)46,XY,inv(Y)共1例,发生率0.41%。242例男性不育症患者AZF微缺失检查,发现有28例存在微缺失,检出率11.57%,其中最常见的为AZFc完全缺失检出16例,占微缺失患者的57.14%。无精症患者发生的Y染色体缺失概率与少弱精症患者无差异。结论 Y染色体多态性和微缺失是导致男性不育的重要原因。

Objective:To investigate the relationship between karyotype and microdeletion of male peripheral blood Y chromosome polymorphism and male infertility. Methods:A total of 242 male infertility patients who were admitted to our hospital from January to February 2018 in 2015 were analyzed for karyotype analysis and Y chromosome microdeletion. Results:Among the 242 male infertility patients,13 cases of Y chromosome polymorphism were detected,the incidence rate was 5.37%,including the following three types:(1)46,XY(Y≥18),7 cases,the incidence rate was 2.89.%;(2)46,XY(Y≤21)a total of 5 cases,the incidence rate of 2.07%;(3)46,XY,inv(Y)a total of 1 case,the incidence rate of 0.41%. AZF microdeletion in 242 male infertility patients showed that there were 28 cases of microdeletions,the detection rate was 11.57%,the most common of which were 16 cases of complete AZFc deletion,accounting for 57.14% of patients with microdeletions. The probability of Y chromosome deletion in azoospermia patients is no different from that in patients with oligozoospermia. Conclusion:Y chromosome polymorphism and microdeletion are important causes of male infertility.