原发性少精、无精子症患者Y染色体微缺失分子检测的应用研究

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。

Study on application of detection of Y chromosomal microdeletion in patients with idiopathic azoospermia or oligospermia

Objective:To study the relationship between azoospermia factor (AZF) with the patients and the distribution rule of microdeletions of AZF in these patients,and to evaluate on the patients who can be applied ICSI and whether they must process prenatal diagnosis after ICSI.Methods:By using the technology of PCR,six sequence-tag-sites in Y chromosome including AZFa,b and c regions were selected and detected with mutiplex PCR.98 idiopathic oligozoospermia and azoospermia patients and 10 normal fertility men were detected.Results:Among the 98 patients,7 patients had Y chromosomal microdeletions.All of the ratio of Y chromosomal microdeletions was 7.14% (7 /98),the ratio of microdeletion in azoospermia patients was 9.43% (5 /53),the ratio of microdeletion in oligospermia patients was 4.44% (2 /45).Conclusion:①Y microdeletions have relation with idiopathic oligospermia and azoospermia patients.②The distributions of Y chromosome microdeletions have relations with idiopathic oligozoospermia and azoospermia patients.③AZF deletions could be transmitted by vertical transmission,and would probably result in infertile sons.In cases of idiopathic oligozoospermia and azoospermia,detection of correlation gene may play an important role in the increase of prepotency ratio before starting artificial insemination with husband's semen and intracytoplasmic sperm injection.