无精子和严重少精子患者Y染色体AZF微缺失的PCR筛查

目的：探讨Y染色体上AZF微缺失与精子生成的遗传效应关系，建立对无精子症和严重少精子患者Y染色体微缺失的筛查方法。方法；本文应用聚合酶链反应（PCR）技术对无精子症和严重少精子患者进行Y染色体上AZFa,AZFb,AZFc等5个基因片段的微缺失检测。结果：在64例无精子患者中，AZFb,AZFc,RBM人率分别为4．69％、17．19％、4．69％、未发现AZFa缺失。在53例严重少精子患者中，除1例同时伴有RBM缺失外，均为AZFc缺失，未发现AZFa和AZFb缺失，缺失率为18．87％。30例正常对照组未发现5个区域缺失。结论：精子发生与Y染色体上的多个基因有关，AZFb,AZFc的微缺失是导致无精子和严重少精子的重要原因，AZFc区微缺失可作病因筛查主要候选基因。

PCR screening of AZF microideletion in patients with a zoospermia and sever oligozoospermia

Objective:To study the genetic-react relationship between AZF microdeletion on Y chromosome and the spermatogenesis and establish a screening Y chromosome microdeletion method for the patients with azoospermia and severe oligozoospermia.Methods:The microdeletion at the AZFa,AZFb and AZFc region of Y chromosome in azoospermia and severe oligozoospermia patients was detected using the polymerase chain reaction(PCR).Results:The AZFb,AZFc and RBM deletion rate is 4.69%,17.19% and 4.69% in 64 azoospermia.and the deletion of AZFa region had not been found;The deletion rate is 18.87% in 53 severe oligozoospermia patients.all AZFc microdeletion except 1 with AZFc and RBM double deletion,AZFa and AZFb microdeletion hadn't been found.The five region microdeletion.hadn't been found in 30 normal control group.Conclusion:There is a relation between the spermatogenesis and more than one gene on the Y chromosome.AZFb and AZFc microdeletion of Y chromosome is a major cause of azoospermia and severe oligozoospermia.AZFc microdeletion is regarded as mostly candidate gene of screening pathogeny.