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目的:探讨Y染色体部分生精基因缺失与原发性少精症和无精症的关系及其分布规律,为评价这部分患者是否可行单精子卵细胞浆注射(IntracytoplasmicSpermInjection,ICSI)及ICSI成功后是否需要行产前诊断提供实验依据。方法:应用聚合酶链反应技术选取Y染色体上AZFa、AZFb、AZFc区6个STS位点进行多重PCR分子检测。对98例原发性少精、无精症患者及10例正常生育男性进行Y染色体微缺失的分子检测。结果:98例原发性少精、无精症患者有缺失者7例,缺失率为7.14%(7/98),其中无精子症中缺失率为9.43%(5/53),少精子症中缺失率为4.44%(2/45)。结论:①Y染色体微缺失与原发性少精症和无精症有关;②Y染色体微缺失的缺失位点分布与原发性少精症和无精症有关;③由于Y染色体微缺失有可能通过垂直遗传给男性后代,因此对原发性少精症和无精症患者,在进行人工授精或胞浆内单精子注射前,进行相关基因检测,对防止基因缺失传给下一代、提高优生率有着重要的临床意义。
OBJECTIVE: To investigate the relationship between the lack of Y chromosome spermatogenesis gene and the prevalence of primary oligozoospermia and azoospermia. To evaluate whether this part of patients is viable for sperm injection (ICSI) and whether ICSI is successful or not Need prenatal diagnosis to provide experimental evidence. Methods: Six STS sites of AZFa, AZFb and AZFc on Y chromosome were selected for polymerase chain reaction (PCR). 98 cases of primary oligospermia, azoospermia and 10 normal fertile men Y chromosome microdeletion molecular detection. Results: In the 98 cases of primary oligozoospermia and azoospermia, there were 7 cases with deletion, the deletion rate was 7.14% (7/98). Among them, the deletion rate in azoospermia was 9.43% (5/53) The deletion rate was 4.44% (2/45). Conclusion: (1) Y chromosome microdeletion is related to primary oligozoospermia and azoospermia; (2) the distribution of deletion loci in Y chromosome microdeletion is related to primary oligozoospermia and azoospermia; (3) Vertical genetic to male offspring, so patients with primary oligozoospermia and azoospermia, artificial insemination or intracytoplasmic sperm injection prior to genetic testing, to prevent the loss of gene passed to the next generation, improve eugenics rate Has important clinical significance.