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目的探讨检测男性不育症患者Y染色体微缺失的临床意义。方法引用多重聚合酶链反应(PCR)对门诊392例男性不育惠者行Y染色体AZFa、AZFb、AZFc、AZFd和SRY20个序列标签位点(STS)设计特异引物进行微缺失检测,同时进行精液常规检查。结果 392例男性不育患者中AZF基因微缺失患者共检出24例,总缺失率为6.12%,其中汉族无精子症组缺失率为6.19%,维吾尔族(以下简称维族)无精子症组缺失率为18.92%,汉族少精子症组缺失率为5.81%,维族少精子症组缺失率为16.67%,汉族弱精子症组缺失率为6.56%,维族弱精子症组缺失率为0%。汉、维族不育症患者Y染色体AZF微缺失率比较差异无统计学意义(P>0.05);汉、维族无精子症患者Y染色体AZF微缺失率比较差异有统计学意义(χ~2=5.333,P=0.021),汉族与维族的Y染色体多位点联合缺失发生率比较差异有统计学意义(χ~2=4.168,P=0.041);汉、维族少精子症患者Y染色体AZF微缺失率比较差异无统计学意义(P>0.05);汉、维族弱精子症患者Y染色体AZF微缺失率比较差异无统计学意义(P>0.05)。结论汉、维族不育症男性患者中Y染色体AZF微缺失发生率存在种族差异,PCR检测AZF基因是诊断Y染色体AZF微缺失的较好的方法。
Objective To investigate the clinical significance of detection of Y chromosome microdeletions in male infertility patients. METHODS: 392 male infertile men in outpatient department were tested for microdeletion with 20 primers (AZS, AZFb, AZFb, AZFc, AZFd and SRY20) by using multiplex polymerase chain reaction (PCR) Routine inspection. Results A total of 24 cases of AZF gene microdeletion were detected in 392 cases of male infertility with a total deletion rate of 6.12%. The deletion rate of azoospermia group in Han was 6.19%, and the absence of Uygur in the Uygur (hereinafter referred to as Uygur) The rate of deletion was 5.81% in the Han oligospermia group, 16.67% in the Uygur minority oligospermia group, 6.56% in the Han asthenospermia group, and 0% in the Uygur weak sperm group. Han and Uygur infertility patients with Y chromosome AZF microdeletion rate was no significant difference (P> 0.05); Han, Uygur patients with Y chromosome AZF microdeletion rate difference was statistically significant (χ ~ 2 = 5.333 , P = 0.021). There was significant difference in the incidence of joint deletion of Y chromosome between Han and Uighurs (χ ~ 2 = 4.168, P = 0.041) There was no significant difference between the two groups (P> 0.05). There was no significant difference in the rate of AZF microdeletion between Han and Uygurs with asthenospermia (P> 0.05). Conclusion There are racial differences in the incidence of Y chromosome AZF microdeletions in Han and Uyghur male infertility patients. PCR detection of AZF gene is a good way to diagnose AZF microdeletion in Y chromosome.