A de novo Mutation in Human SRY Gene—Codon 113 GCA→ACA Found in an XY Female  

作　　者：曾溢滔 任兆瑞 张美兰 黄英 曾凡一 黄淑帧 陆建英 朱效林 

机构地区：[1]Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai 200040 PRC [2]Shanghai 1st Maternal and Infant Hospital, Shanghai 200040 PRC

出　　处：《Chinese Science Bulletin》1993年第12期1048-1051,共4页

基　　金：Project supported by Shanghai Municipal Committee of Science

摘　　要：The recent advances in sex determination of eutherian mammals (including humans) have disclosed a gene on the short arm of the Y chromosome which initiates male development, termed SRY(sex-determining region of the y). It is a highly conserved single copy gene with 250 bp of core sequence, encoding a protein sequence with an 80 residue stretch, which is characteristic of a DNA-binding motif known as the HMG box (high mobility group box). This great achievement in life science gives the in-

关 键 词：SEX REVERSAL SRY gene mutation. 

分 类 号：N[自然科学总论]