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目的研究无精子症和少精子症患者染色体畸变及Y染色体(Yq11区)无精子症因子(azoospermicfac-tor,AZF)微缺失情况,建立Y染色体微缺失的临床筛查方法。对原发性无精子及少弱精症患者与AZF微缺失的关系。方法对145例患者(无精子症102例,严重少精子症43例)经染色体核型分析及AZF的3个位点8对引物PCR扩增,检测染色体畸变和Y染色体微缺失率。选取6个Y染色体特异性序列标签位点(STS),用PCR技术检测145例精子发生障碍患者AZF区微缺失情况。结果145例中染色体核型异常12例,占8.3%。AZF区微缺失21例,缺失率为14.5%。无精子症和严重少精子症AZF缺失率分别为14.70%和11.62%。145例中AZF区微缺失21例,表现为无精子症。缺失均在AZFc区,7例为DAZ(sY254、sY255)缺失,另2例为DNA加sY157缺失。结论染色体畸变和Y染色体微缺失是导致无精子症和严重少精子症的主要原因之一。无精子症缺失率高于严重少精子症患者。AZF3个位点8对引物PCR扩增可作为Y染色体微缺失的临床筛查方法。
Objective To investigate the chromosomal aberrations in azoospermia and oligospermia patients and the microdeletions of azoospermicfac-tor (AZF) in Y chromosome (Yq11) and to establish a clinical screening method for Y chromosome microdeletion. Relationship between primary azoospermia and oligospermia with AZF microdeletion. Methods Chromosome karyotype analysis was performed on 145 patients (102 cases of azoospermia and 43 cases of severe oligospermia) and 8 pairs of primers of AZF were amplified by PCR to detect chromosomal aberrations and Y chromosome microdeletions. Six Y chromosome specific sequence tagging sites (STS) were selected and the microdeletions of AZF in 145 patients with spermatogenic disorders were detected by PCR. Results 145 cases of chromosomal abnormalities in 12 cases, accounting for 8.3%. AZF microdeletions in 21 cases, the deletion rate was 14.5%. Azoospermia and severe oligospermia AZF deletion rates were 14.70% and 11.62%. Among 145 cases, AZF region was found to be azoospermia in 21 cases. The deletion was in AZFc region, 7 cases were DAZ (sY254, sY255) deletion, and the other 2 cases were DNA plus sY157 deletion. Conclusion Chromosomal aberrations and Y chromosome microdeletions are one of the major causes of azoospermia and severe oligospermia. Azoospermia than the rate of severe oligospermia patients. PCR amplification of 8 pairs of primers of AZF3 loci can be used as a clinical screening method for Y chromosome microdeletion.