32例DAZ基因缺失表型效应分析  

DAZ gene deletion and phenotypes of 32 males with infertility

作　　者：韩士广 鄂伟 黄芳 李学付 郭廷超 姜淼 韩维田 

机构地区：[1]辽宁省计划生育科学研究院辽宁省生殖健康重点实验室,辽宁沈阳110031

出　　处：《中国性科学》2010年第6期23-24,28,共3页Chinese Journal of Human Sexuality

基　　金：辽宁省自然科学基金项目(编号:NK20032041)

摘　　要：临床上筛选无明显诱因的精液异常男性不育患者,排除染色体核型异常病例,在AZFa、b、c和d区域均匀选择缺失高发位点排除缺失,设100例正常男性与10例正常女性做对照,对DAZ1～4基因进行了缺失性研究;选择同时存在于DAZ1～4基因内部的STS位点sY587,结合其PCR扩增产物中DraI酶切位点的差异判断DAZ1～4共缺失情况;经筛选分析得到32例DAZ共缺失患者,DAZ1～4共缺失及DAZ1/DAZ2共缺失分别为9例和23例,在无精症、少精症和畸精症中分别为22(6/16)例,为8(3/5)例,2(0/2)例,正常对照中未见缺失出现,Fisher’s精确概率法推算出P值为0.830;上述结果说明,DAZ基因缺失是引起男性生殖异常的主要原因,共缺失的部位及长度与表型的严重程度未见相关性。We clinically selected male infertility patients with abnormal semen but without other obvious risk factors,excluding those patients with abnormal chromosomal karyotypes.Patients with hot spots deletion in chromosome AZFa、b、c were studied,and 100 normal males and 10 females were selected as controls;Common STS of sY587 was picked out to detect co-deletion of DAZ1-4 by DraI restriction enzyme digesting;A total of 32 cases with co-deletion of DAZ1-4 were found,including 9 cases of DAZ1/DAZ2 and 23 cases ofDAZ1-4 deletion,in which azoospermia,oligozoospermia and teratospermia were 22(6/16),8(3/5)and 2(0/2)respectively and no deletion was found in control group.Fisher's Exact Test showed there is significant difference between the two groups(P=0.830).These results supported that DAZ mutations was the main cause of male reproductive abnormality.No internal correlation between co-deletion position and length and severity of phenotype was identified.

关 键 词：精子缺乏基因 无精子症 少精子症 突变 

分 类 号：R734.2[医药卫生—肿瘤]