论文部分内容阅读
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 relationship between chromosomal karyotype and AZF microdeletion in azoospermia and severe oligospermia patients so as to investigate the value of Y chromosome AZF microdeletion detection in male infertility. Methods Azoospermia, severe oligospermia in patients with cytogenetic analysis, according to the analysis results are divided into normal and abnormal chromosome karyotype group. Six sequence tagging sites (STS) were amplified by polymerase chain reaction (PCR) from the region where the Y chromosome was located in each sample. The amplification products were detected by agarose gel electrophoresis. Results Among the 76 patients with azoospermia and severe oligospermia analyzed, 27 cases were abnormal in karyotype, of which there was no AZF deletion in Y chromosome. There were 49 cases with normal chromosome karyotype, of which 1 case had no Sperm patients found the existence of Y chromosome AZF deletion. Conclusion There is no correlation between chromosomal abnormalities and AZF microdeletions. Y chromosome AZF microdeletion is one of the causes of male infertility. Y chromosome AZF microdeletion detection in azoospermia, severe oligospermia patients have important value, can be clear azoospermia, severe oligozoospermia etiology, thus avoiding unnecessary treatment.