46,XY女性性逆转患者的NR5A1基因突变分析  

Mutation Analysis of Nuclear Receptor Subfamily 5 Group A Member 1 in 46,XY Female Sex Reversal

作　　者：陈雪娇[1] 许惠惠[1] 潘映秋[1] 戴美珍[1] 范历龙[1] 章鸯[1] 

机构地区：[1]浙江省台州医院中心实验室,317000

出　　处：《医学研究杂志》2013年第3期107-110,共4页Journal of Medical Research

基　　金：浙江省台州市科技计划项目(100KY09);恩泽医疗中心(集团)科学研究基金资助项目(2010)

摘　　要：目的分析XY女性性逆转患者核受体亚家族5,组A,成员1(nuclear receptor subfamily 5 group A member 1,NR5A1)基因的基因突变情况。方法抽提样本外周血白细胞的DNA,对NR5A1的2～7外显子进行PCR扩增,扩增产物直接测序,重复实验和克隆测序实验验证检测到的突变,酶切分析筛查110名正常人群排除突变的多态性。结果在5例样本中未检出明显异常的突变,只在样本4中检出1个多态突变(p.G146A),该突变在正常对照人群中检出了37.3%的突变率。结论尽管在本研究中只检出1个基因多态突变,但结合国外报道,NR5A1的基因突变和性逆转的发生还是存在相关性。Objective To investigate the mutations in NRSA1 leading to 46,XY female sex reversal. Methods Genomic DNA was extracted from peripheral blood leukocytes and exons 2 -7 of the gene encoding SF- 1 （NRSA1） were PCR -amplified. And direct se- quencing was carried out to detect the mutation. Clone sequencing and repeated trial was applied to detect the results of DNA sequencing. Mutation was screened in 110 normal individuals who were unrelated persons with normal phenotypes to exclude the possibiblity of poly- morphism by restriction enzyme digestion. Results We did not observe the mutation in 5 cases except a polymorphic mutation of p. G146A in exon4 in patient 4. p. G146A in normal individuals was detected in 37.3% mutation rate. Conclusion Although we only detect a poly- morphic mutation,there are so many other reports that N RSA1 mutations is a relatively frequent cause of 46,XY DSD in humans.

关 键 词：性逆转 NR5A1基因SF-1基因 基因突变 

分 类 号：R733.72[医药卫生—肿瘤]