Y染色体微缺失检测在男性不育的临床应用

The clinical significance of Y chromosomal microdeletions detection in male infertility

目的探讨Y染色体微缺失检测与男性不育的相关性及临床意义。方法利用分布于AZFa、AZFb、AZFc、AZFd区15个Y染色体特异序列标签位点,以4组多重PCR技术对31例无精和165例严重少精患者及30例已婚自然生育男性自愿者进行Y染色体微缺失检测。结果 196例无精症或严重少精症患者中,Y染色体微缺失14例,缺失率为7.14%(14/196),最常见Y染色体微缺失是AZFc+d。30例对照组没有发现任何缺失。其中AZFa区缺失4例(28.57%)和AZFc+d区缺失5例(35.72%),均表现为严重少精症;AZFb+c+d区缺失者4例(28.57%),1例为无精症,3例为严重少精症;AZFa+b+c+d区均缺失者1例(7.14%),表现为无精症。结论 Y染色体微缺失是男性不育的重要病因,其检测为男性不育临床诊断和治疗提供科学依据。

Objective To assess the relevant relationship and clinical significance of Y chro- mosomal microdeletions and male infertility. Methods Y chromosome microdeletions were detected by 4 sets of multiple polymerase chain reactions from 196 male infertility patients with 31 cases azoospermia and 165 cases severe oligozoospermia and 30 normal fertile men. 15 Y chromosome specific sequence-tagged site labels （STS） distributed in AZFa, AZFb, AZFc, AZFd were amplified. Results Of the 196 cases with azoospermia or severe oligozoospermia, 14 cases were found with Y chromosome microdeletions, given the prevalence rate of deletion was 7.14%（14/196）. AZFc ＋ d were the most common deletions found in Y chromosome. No such deletion was observed among the 30 normal fertile men in the control group. Among those patients, 4 cases （28.57%） with microdeletion in AZFa and 5 cases（35.72%） in AZFc ＋ d regions, were all characterized with severe oligozoospermia; 4 cases （28.57%） with Y chromosome mi- crodeletions in AZFb ＋ c ＋ d, 1 patient were characterized with azoospermia and the other 3 cases with se- vere oligozoospermia were detected. 1 cases （7.14%） with highly microdeletion in AZFa ＋ b ＋ c ＋ d regions were mainly characterized with azoospermia. Conclusion Y chromosomal microdeletions is one of the major cause for male infertility. Analysis of them will provides science indication to diagnosis and therapy of male infertility.