论文部分内容阅读
目的探讨Y染色体微缺失检测的意义。方法应用多重PCR对329例无精子症和671例严重少精子症患者行Y染色体AZFa、AZFb和AZFc基因微缺失检测。结果共检出Y染色体微缺失76例(7.6%),其中AZFc缺失60例(78.9%)。无精子症患者检出率为10%,严重少弱精子症患者检出率为6.4%,这两组缺失率有统计学意义(P<0.05)。结论 AZFc缺失是最常见的缺失类型。无精子症患者Y微缺发生率较严重少精子症患者高。Y染色体微缺失检测为这类患者的遗传咨询提供重要依据。
Objective To investigate the significance of detection of Y chromosome microdeletions. Methods Multiplex PCR was used to detect the microdeletions of AZFa, AZFb and AZFc genes in 329 cases of azoospermia and 671 cases of severe oligospermia. Results A total of 76 cases (7.6%) of Y chromosome deletions were detected, of which 60 cases (78.9%) had AZFc deletion. The detection rate of azoospermia patients was 10%, severe azoospermia patients was 6.4%, the missing rate of these two groups was statistically significant (P <0.05). Conclusion AZFc deletion is the most common type of deletion. Azoospermia in patients with less severe etiology of oligozoospermia. Y chromosome microdeletion test for these patients provide an important basis for genetic counseling.