摘要
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。
Objective： On the base of cytogenetics , to develop a set of molecular techniques： which can examine micredeletions 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 （intraeytoplasmic sperm injection） .
出处
《中国优生与遗传杂志》
2006年第5期19-21,共3页
Chinese Journal of Birth Health & Heredity
