广西地区男性不育患者Y染色体微缺失结果分析及遗传效应

目的探讨广西地区男性不育患者Y染色体微缺失结果情况和临床遗传效应。方法采用染色体技术、PCR技术等对2180例男性不育患者进行外周血染色体分析及Y染色体微缺失6个系列标签位点检测。结果 2180例样本Y染色体AZF基因检测和Y染色体异常分别为总缺失率为6%（130/2180）和3.3%（71/2180）。同时发现Y染色体AZF基因缺失在生精障碍组与正常组、不孕产史组具有统计学意义;Y染色体核型以小Y和染色体多态性常见。结论男性不育患者与Y染色体微缺失及细胞核型所表现临床遗传效应密切相关,对于生殖异常的男性行外周血染色体检查和AZF微缺失检测有助于明确其遗传学病因,更好的为患者提供病因诊断、遗传咨询和治疗方案。

Result analysis and genetic effect for Y chromosome microdeletions in Guangxi area with male patients infertility

Objective：Try to explore Y chromosome microdeletions in males with infertility patients results and clinical genetic effect. Methods：With Karyotypic anlaysis and PCR were carried out in 2180 male idopathic infertile patients for chromosome karyotype and Y chromosme microdeletions 6 series label site detection. Resulst：Of the 2180 cases of sample Y chromosome detection of AZF gene and Y chromosome abnormality was respectively 9.4%（205/2180）and 3.3%（71/2180）. At the same time found that the Y chromosome AZF gene deletion with statistical significance in spermatogenic failure group and the normal group,the production history of infertility group. Short Y and chromosome polymorphism on Y chromosome karyotype in common. Conclusion：Patients with male infertility annd Y chromosome microdeletions and karytype genetic performance is closely related to clinical effect,Chromosome karyotype analysis and AZF microdeletions examination could identify the genetics etiollogy in males with reproductive failure.better to provide patients with etiplogy diagnosis,genetic counseling and treatment plan.