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目的:探讨引起特发性无精子和严重少精子造成男性不育的遗传学原因和检测无精子因子(AZF)的临床意义。方法:对50例特发性男性不育患者(不育组)和50例正常生育者(对照组)的外周血标本,提取基因组DNA,通过多重聚合酶链反应检测Y染色体AZF微缺失。结果:对照组均可见SRY、SY84、SY86、YRRM1(RBM1)和SY254(DAZ)扩增带。不育组6 例(无精子症4 例,严重少精子症2 例)可见SRY扩增带,但未见SY254扩增带,其中2例同时未见YRRM1 扩增带;1 例仅未见YRRM1 扩增带。结论:Y染色体AZF 微缺失是引起无精子和严重少精子并造成男性不育的重要原因之一;AZF微缺失检测对男性不育症患者进行遗传学诊断与筛查有一定意义。
Objective: To investigate the genetic causes of male infertility caused by idiopathic azoospermia and severe oligospermia, and to explore the clinical significance of detecting azoospermia (AZF). Methods: Genomic DNA was extracted from peripheral blood samples from 50 idiopathic male infertility patients (infertile group) and 50 normal fertile subjects (control group), and the Y chromosome AZF microdeletions were detected by multiplex polymerase chain reaction. Results: The control group showed SRY, SY84, SY86, YRRM1 (RBM1) and SY254 (DAZ) amplification bands. Six cases of infertility (4 cases of azoospermia, 2 cases of severe oligospermia) can be seen SRY amplification band, but no SY254 amplification band, of which 2 cases also did not see the YRRM1 amplification band; only 1 case of YRRM1 Expand the band. CONCLUSION: AZF microdeletion of Y chromosome is one of the most important causes of azoospermia and severe oligozoospermia and male infertility. AZF microdeletion detection is of great significance in genetic diagnosis and screening of male infertility patients.