无精子症、严重少精子症患者染色体核型与Y染色体AZF微缺失的相关性分析

The analysis of correlation between karyotype and AZF microdeletion on Y chromosome for patients with azoospermia and severe oligozoospermia.

目的对无精子症、严重少精子症患者染色体核型与Y染色体AZF微缺失的相关性进行分析,以探讨Y染色体AZF微缺失检测在男性不育中的应用价值。方法对无精子症、严重少精子症患者进行细胞遗传学分析,根据分析结果分为染色体核型正常组及异常组。采用PCR方法对各样本Y染色体AZF所在区域的6个序列标签位点(STS)进行扩增,琼脂糖凝胶电泳进行扩增产物的检测。结果在所分析的76例无精子症、严重少精子症患者中,染色体核型异常组27例,其中未检测到有Y染色体AZF缺失的存在;染色体核型正常组49例,其中1例无精症患者发现有Y染色体AZF缺失的存在。结论染色体核型异常与AZF微缺失无相关性。Y染色体AZF微缺失是造成男性不育的原因之一。Y染色体AZF微缺失检测在无精子症、严重少精子症患者中具有重要价值,可明确无精子症、严重少精子症的病因,从而避免不必要的治疗。

Objective： To analyze the correlation between karyotype and AZF microdeletion on Y chromosome for patients with azoospermia and severe oligozoospermia, for approaching the value of AZF microdeletion detection on Y chromosome for male infertility. Methods： The cytogenetic analysis of 76 patients with azoospermia and severe oligozoospermia was accomplished. Then the sampies were divided to normal karyotype group and abnormal karyotype group. And six sequence tag site （STS） on Y chromosome where azoospermia factor （AZF） loci were amplified by PCR for each sample, scanning PCR products using agarose gel electrophoresis. Results： In the 76 patients with azoospermia and severe oligozoospermia, the abnormal karyotype group was 27 eases. And the existence of AZF microdeletion on Y chromosome was not found in this group. The normal karyotype group was 49 cases, in which there was detected one case of AZF microdeletion on Y chromosome. Conclusions： There was no correlation between abnormal of karyotype and AZF microdeletion. The AZF microdeletion on Y chromosome was one of the causes of male infertility. The detection of AZF microdeletion on Y chromosome has important value in patients with azoospermia and severe oligozoospermia. This detection can identify the cause of azoospermia and severe oligozoospermia, so to avoid the unnecessary therapy.