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目的 明确与中国人原发无精和严重少精症密切相关的 Y染色体无精症因子 (azoospermiafactor,AZF)区域微缺失位点及其缺失特点 ,为开展中国人 AZF微缺失基因诊断提供理论依据。方法 采用多重聚合酶链反应技术 ,针对实验组 13 4例原发无精、118例原发严重少精症患者与对照组 2 10名已正常生育男性 ,进行 AZFa、AZFb、AZFc三个区域共 15个序列标签位点 (sequence tag site,STS)的微缺失分析。结果 对照组在所有 15个 STS位点中均未发现缺失 ,实验组 STS位点缺失涉及到 13个 STS位点 ,分别是 :AZFa区的 s Y84、s Y86,AZFb区的 s Y12 1、s Y12 3、s Y12 4、s Y12 7、s Y13 4、 s Y13 3 ,AZFc区的s Y152、s Y2 42、s Y2 54、s Y2 55、s Y157。在 5例无精患者中发现 AZFa区 STS位点缺失 ,缺失率为 2 .0 % ,在 7例无精与 3例少精患者中发现 AZFb区 STS位点缺失 ,缺失率为 4.0 % ,在 14例无精与 18例少精患者中发现 AZFc区 STS位点缺失 ,缺失率为 12 .7%。统计学分析提示实验组与对照组 13个 STS位点缺失率差异有极显著性。结论 所确定的 AZF区域 13个 STS位点缺失与中国人原发无精和严重少精密切相关 ,未发现上述 STS位点缺失的群体多态现象 ;中国人原发无精和严重少精症 AZF区域微缺失的频率、分布、缺失热
Objective To clarify the microdeletions and deletions in the region of AZF associated with primary azoospermia and oligozoospermia in Chinese population and to provide a theoretical basis for the gene diagnosis of AZF microdeletion in Chinese . Methods Multiplex polymerase chain reaction (PCR) was used in this study. A total of 104 cases of primary infertility and 118 cases of primary severe oligozoospermia in the experimental group and 210 normal pregnant women in the control group were enrolled in this study. AZFa, AZFb and AZFc Microdeletion analysis of 15 sequence tag sites (STS). Results The control group showed no deletion in all 15 STS loci. The STS locus deletion in the experimental group involved 13 STS loci: s Y84, s Y86 in AZFa, s Y12 1 in s Y12 3, s Y12 4, s Y12 7, s Y13 4, s Y13 3, s Y152, s Y2 42, s Y2 54, s Y2 55, s Y157 in the AZFc region. The absence of STS loci in AZFa was found in 5 cases of patients with leucozygotic disease, with a loss rate of 2.0%. The absence of STS loci in AZFb was found in 7 cases of azoospermia and 3 cases of oligospermia with a deletion rate of 4.0% In 14 cases of azoospermia and 18 cases of oligospermia patients found AZFc STS deletion, deletion rate of 12.7%. Statistical analysis suggested that there was a significant difference in the missing rate of 13 STS loci between the experimental group and the control group. Conclusions The deletion of 13 STS loci in the AZF region was found to be associated with primary spermatogenesis and severe oligozoospermia in Chinese. No polymorphism was detected in the STS loci. The Chinese patients with primary and severe oligozoospermia Frequency, distribution, loss of heat in the AZF region microdeletion