男性不育的遗传学研究及在ICSI中的意义

目的在细胞遗传学基础上,建立和应用一套检测Y染色体微缺失和雄激素受体基因外显子A突变的分子诊断方法,以便研究男性不育发病机制,为临床辅助生殖技术提供遗传咨询。方法对139例原发不育患者采用外周血染色体G显带、C显带技术,并选择其中40例应用多重PCR和PCR-SSCP银染进行DAZ基因及雄激素受体基因外显子A突变检测。结果139例原发不育患者G、C显带发现54例染色体核型异常,3例DAZ基因缺失,5例雄激素受体基因外显子A发生点突变。结论通过细胞遗传学检查和DAZ基因及雄激素受体基因外显子A突变检测,从遗传学角度探讨了男性不育的病因,对卵浆单精子显微注射技术提供了理论依据。

A genetic study in male infertility patients and its significance on ICSI

Objective: On the base of cytogenetics,to develop a set of molecular techniques: which can examine microdeletions on Y chromosome and mutations in the exon A of androgen receptor gene for studying mechanism in male infertility patients and providing genetic consulting for clinical assisted reproductive technique.Metholds: Peripheral blood samples were taken from 139 male infetelity patients,then examined by use of G banding and C banding cytogenetic analysis.40 samples chosen to do multiplex chain reaction and PCR-SSCR analysis.Results: 54 patients with chromosomal aberration,3 patients with DAZ gene deletion and 5 patients with mutations in the exon A of androgen receptor gene were found.Conclusion: By the cytogenetics and molecular techniques,we canexplore mechanism in male infertility patients and provide theory foundation for ICSI(intracytoplasmic sperm injection).