成都地区原发男性不育患者AZF基因微缺失研究

目的 调查成都地区原发男性不育患者AZF基因微缺失情况及其微缺失特点。为今后男性不育治疗及辅助生殖技术的临床开展提供理论参考。方法 运用PCR及琼脂糖凝胶电泳等方法。对成都地区42例原发性无精子症患者进行了基因微缺失筛查。结果 发现8例无精症患者发生住点缺失，其中AZFa区位点1例,AZFb区sY123，sY127位点各1例，AZFe区sY242／sY255／sY157住点3例，sY152／sY242位点2例，总缺失率为19．05％。结论 本研究有力证实中国人男性原发无精症与AZF微缺失密切相关，与国外其他国家或人种的研究报道结果类似。AZFc区的基因片段缺失可作为无精子和严重少精子症病因筛查的主要候选基因。由此在临床对原发性无精症患者进行常规AZF检测是十分必要的。

Preliminary study on AZF microdeletion in idiopathic azoospermia patients in Chengdu area

Objective To Investigate the AZF microdeletion condition and its characteristics in idiopathic azoospermia patients in Chengdu area,and provide theoretic foundation for the future ART practice.Methods AZF microdeletion screening was carried out in 42 idiopathic azoospermia patients in Chengdu area by using PCR and gelose gel electrophoresis.Results It was found that there are 8 cases of microdeletion,i.e.AZFa sY98 deletion 1 case,AZFb sY123,sY127 deletion 2 cases,AZFc sY242/sY255/sY157 deletion 3 cases,and sY152/sY242 deletion 2 cases respectively,with total deletion rate 19.05%,in those patients.Conclusion There is a close relationship between AZF microdeletion and idiopathic azoospermia;and AZFc may be the main candidate gene responsible for azoospermia and severe oligospermia.It is necessary to take routine AZF microdeletion test in these patients.