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目的探讨深圳地区无精子症、少精子症患者染色体异常核型和Y染色体无精子因子(azoospermia factor,AZF)微缺失的发生率和分布类型,进一步明确其在男性不育中的诊断意义。方法回顾性分析了自2006年1月至2014年1月共1591例无精子症、少精子症患者的染色体核型和AZF微缺失。染色体核型分析采用外周血淋巴细胞培养G显带方法;AZF微缺失采用多重PCR技术对AZF基因的四个亚区(AZFa-d)共15个序列标签位点(sequence tagged sites,STSs)进行检测。结果在1591例无精子症、少精子症患者中279例有遗传学缺陷,异常率为17.54%。染色体异常核型210例,发生率为13.20%(210/1591),Klinefelter’s综合征患者24例(11.43%),Y染色体结构异常103例(49.05%)。AZF微缺失85例,检出率为5.34%,最常见的微缺失区域是AZFc区联合部分AZFd区缺失(63.53%,54/85),在所有位点中s Y152缺失频率最高(88.24%,75/85)。结论染色体异常核型和AZF微缺失是导致男性不育的主要原因之一。结合细胞水平和分子水平筛查可以更加全面的评估无精子症、少精子症患者遗传学缺陷,为男性不育患者提供更好的病因诊断,遗传咨询及治疗方案的选择。
Objective To investigate the incidence and distribution of chromosomal aberrations karyotypes and azoospermia factor (AZF) in patients with azoospermia and oligospermia in Shenzhen, and to further clarify their diagnostic significance in male infertility. Methods A total of 1591 cases of azoospermia and oligospermia were analyzed for karyotype and AZF microdeletion from January 2006 to January 2014. Chromosomal karyotype analysis was performed using G banding of peripheral blood lymphocytes; AZF microdeletions were performed using a total of 15 sequence tagged sites (AZSs) of the AZFa-d AZF gene using multiplex PCR Detection. Results In 1591 cases of azoospermia, oligozoospermia in 279 cases of genetic defects, the abnormal rate was 17.54%. There were 210 karyotype abnormalities in 210 cases (210/1591), Klinefelter’s Syndrome in 24 cases (11.43%) and Y chromosome abnormalities in 103 cases (49.05%). There were 85 cases of AZF microdeletions, with a detection rate of 5.34%. The most common microdeletions were AZFd deletion in the AZFc region (63.53%, 54/85), and the highest deletion frequency of Y152 in all sites (88.24% 75/85). Conclusion Chromosomal aberration karyotype and AZF microdeletions are one of the main causes of male infertility. Combined with cell level and molecular screening can more comprehensive assessment of azoospermia, oligozoospermia genetic defects, for male infertility patients to provide a better etiological diagnosis, genetic counseling and treatment options.