1736例男性不育患者染色体核型异常情况及细胞和分子遗传学分析

Analysis the situation of chromosomal abnormality and cell and molecular genetics in 1736 male infertility patients

目的了解深圳地区无精子症或严重少精症男性不育患者染色体核型异常和Y染色体无精子症因子(Azoospermia factor,AZF)微缺失情况,为男性不育患者进行辅助生殖技术之前提供遗传筛选依据。方法收集2016年2月～2018年10月来院就诊并确诊为无精子症或严重少精子症男性不育患者1736例,采用淋巴细胞培养G显带法对外周血染色体进行核型分析,采用多重聚合酶链反应(PCR)结合毛细管电泳技术检测Y染色体AZF微缺失。结果 1736例无精子症或严重少精症男性不育患者中检出染色体核型异常的159例,异常率为9.16%,其中染色体数目异常率为59.12%,以47,XXY检出率最高,约32.70%,明显高于其它数目异常类型,差异有统计学意义(χ~2=3.025～11.924,P<0.05);结构异常率为36.48%,以46,X,inv(Y)检出率最高,约11.95%,明显高于其它结构异常类型,差异有统计学意义(χ~2=2.174～7.562,P<0.05);性反转综合征占总异常的4.40%;Y染色体AZF微缺失检出145例,缺失率为8.35%,其中AZFc缺失为最常见的缺失类型,缺失率为73.10%,明显高于其它缺失类型,差异有统计学意义(χ~2=4.9254～116.3152,P<0.05～0.001)。结论染色体核型异常和AZF微缺失在深圳地区无精子症或严重少精症男性不育患者中有一定的检出率,可能是导致男性不育的重要原因。对男性不育患者进行染色体核型和AZF微缺失检测,可为男性不育患者孕前准备提供筛选依据。

Objective:To understand the situation of chromosomal karyotype abnormality and the microdeletion of Azoospermia factor(AZF)on Y chromosome in male infertility patients with Azoospermia or severe oligospermia in shenzhen area,so as to provide genetic screening basis for male infertility patients before assisted reproductive technology.Methods:1736 cases of male infertility with azoospermia or severe oligospermia were collected from February 2016 to October 2018,and The chromosome karyotypes in peripheral blood were analyzed by G banding method and Multiple polymerase chain reaction(PCR)combined with capillary electrophoresis was used to detect AZF microdeletion on Y chromosome.Results:In 1736 cases of male infertility with azoospermia or severe oligospermia,there were 159 cases with chromosomal karyotype abnormality,the abnormal rate was 9.16%.among which the chromosome number abnormality rate was 59.12%,and the highest detection rate was 47,XXY,about 32.70%,significantly higher than other abnormal number types,with a statistically significant difference(χ^2=3.025~11.924,P<0.05).The structural anomaly rate was 36.48%,The detection rate of 46,X,inv(Y)was the highest,about 11.95%,significantly higher than other structural abnormal types,and the difference was statistically significant(χ^2=2.174~7.562).The comprehensive expropriation of sex reversal accounts for 4.40%of the total anomalies;Microdeletion of AZF on Y chromosome was detected in 145 cases,the deletion rate was 8.35%,among which AZFc deletion was the most common deletion type,the deletion rate was 73.10%,significantly higher than other deletion types,and the difference was statistically significant(χ^2=4.9254~116.3152,P<0.05~0.001).Conclusion:Chromosomal karyotype abnormality and AZF microdeletion may be an important cause of male infertility due to high detection rate in male infertility patients with azoospermia or severe oligospermia in shenzhen area.The chromosome karyotype and AZF microdeletion detection of male infertility patients can provide the screening basis for pre-pregnancy preparation of male infertility patients.