摘要
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。
Objective: To determine microdeletion loci and the characteristic of Y chromosome azoospermia factor (AZF) associated with Chinese idiopathic azoospermia or severe oligozoospermia and hence to provide a theoretic basis for gene diagnosis of AZF microdeletion in Chinese infertility men. Methods: The subjects of this study included 134 cases of azoospermia and 118 severe oligozoospermia, and 210 healthy male controls. With multiplex PCR technique, an analysis of 15 sequence tag sites(STS) in AZFa, AZFb and AZFc microdeletion was performed. Results: No microdeletion was detected in controls whereas 13 STS loci microdeletions existed in cases, including sY84 and sY86 in AZFa; sY121, sY123, sY124, sY127, sY134 and sY133 in AZFb; sY152, sY242, sY254, sY255 and sY157 in AZFc. Five azoospermia patients were involved in AZFa microdeletions, 7 azoospermia and 3 severe oligozoospermia patients in AZFb, and 14 azoospermia and 18 severe oligozoospermia patients in AZFc. The prevalence rates of microdeletion in AZFa, AZFb and AZFc were 2.0%, 4.0% and 12.7% respectively. The microdeletion rate showed statistically significant difference between the cases and controls. Conclusion: This study revealed an association between the microdeletion of 13 STS loci of AZF region and the idiopathic azoospermia or severe oligozoospermia in Chinese. There is no evidence to identify the genetic polymorphism of the above STS loci. The frequency and distribution characteristic of AZF microdeletion are similar to those of Caucasians. As candidate loci the 13 STS are useful in clinical gene diagnosis for the detection of AZF microdeletion in Chinese idiopathic azoospermia and severe oligozoospermia.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
2003年第5期385-389,共5页
Chinese Journal of Medical Genetics
基金
四川省计生委基金 ( 2 0 0 1 49)
