柳州地区530例男性不育患者细胞遗传学与分子遗传学的分析

Cytogenetics and molecular genetics analysis in 530 cases male infertile patients

目的探讨Y染色体AZF基因缺失与男性不育症的关系,为临床辅助生殖技术提供理论支持。方法利用染色体核型分析、聚合酶链反应(polymerase chain reaction,PCR)和琼脂糖凝胶电泳(agarose gel electrophoresis,AGE)技术,对严重少弱精子症和无精子症男性不育患者进行无精子症因子(azoospermia factor,AZF)基因的15个位点分析。结果 530例不育症患者中有119例存在核型异常;34例存在AZF基因缺失,缺失率为6.4%。结论染色体数目结构异常与无精子症和严重少精子症的发生密切相关,Y染色体AZF基因缺失是导致男性不育的重要原因,辅助生殖治疗前有必要进行AZF基因缺失的检测。

Objectivs：To investigate the relationship between AZF gene deletions on Y chromosome and male infertility,for clinical assisted reproductive technology provide theoretical support.Methods： Using the daryotype anlaysis technique,polymerase chain reaction（PCR） and agarose gel electrophoresis（AGE） technique to analyze 15 locus of the azoospermia factor（AZF）gene on Y chromosome.Results： Among 530 cases of male infertility patiens had 119 cases chromosomal aberrations;34 cases AZF gene deletions,loss rate is 5.4%.Conclusion： Abnormalities structure and number of chromosome has a close relation with the azoospermia and severe oligozoospermia,AZF gene deletions on Y chromosome are one of major causes of male infertility,AZF gene deletions are necessary prior to assisted reproductive treatment.