8例46，XX男性和16例46，XY女性的SRY序列研究  

STUDY ON SRY GENE IN 8 CASES OF 46,XX MALES AND 16 CASES OF 46,XY FEMALES

作　　者：黄英[1] 陈美珏[1] 孙琼[1] 任兆瑞[1] 曾溢滔[1] 

机构地区：[1]上海市儿童医院上海医学遗传研究所

出　　处：《中华医学遗传学杂志》1996年第4期228-230,共3页Chinese Journal of Medical Genetics

基　　金：卫生部医学科学基金;上海市科委启明星基金

摘　　要：为探讨Ｙ染色体性别决定区基因（ＳＲＹ）在性分化中的作用。在染色体核型分析的基础上，应用聚合酶链反应（ＰＣＲ）和直接测序技术，对８名４６，ＸＸ男性和１６名４６，ＸＹ女性患者进一步作了ＳＲＹ序列的分析研究。结果发现：２例４６，ＸＸ男性的ＤＮＡＰＣＲ扩增出现特异的ＳＲＹ序列扩增片段；１例４６，ＸＹ女性的ＳＲＹ核心序列ｃｏｄｏｎ１１３出现Ａ→Ｔ的新生突变；１例４６，ＸＹ女性的ＳＲＹ编码序列上游ＡＡＣＡＡＧ区（转录因子结合位点）处碱基Ｇ→Ａ突变。上述研究结果提示：ＳＲＹ基因是性发育的重要遗传学基础，并为进一步揭示ＳＲＹ基因的结构与功能的关系和在临床上对性反转综合征患者的诊断、治疗提供有价值的科学资料。Sex reversal syndrome represents a heterogenous group of diseases resulting from the defects in sex determination and development.Recently a gene,named SRY(sex determining region of the Y chromosome),has been found to be responsible for the initiation of testis formation in the mammal embryos,and mutations in SRY gene may lead to sex reserval.In order to further investigate the action of this gene in sex development,we analyzed the SRY gene in the patients with sex reversal syndrome,including 8 cases of 46,XX males and 16 cases of 46,XY females.Genomic DNA from these patients and their parents was amplified with PCR primers specific for the SRY sequence and the amplified SRY fragments were directly sequenced by a double strand sequencing procedure.The results showed that(1)of the 8 cases of XX males,2 cases had SRY gene with a normal structure;(2)one XY female bad a de novo mutation at codon 113 A→T of SRY HMG-related box;(3)in addition,a new single base substitution of G→A occurred at nt.-81 of the gene that is close to a regulatory sequence AACAAG.This mutation is not a trival polymorphism as it was not found in 200 Chinese male controls.All the results demonstrate that SRY gene is important for sex differentiation,and SRY mutations may associate with sex reversal syndrome,contributing to our understanding of molecular basis of this disorder.

关 键 词：SRY基因 性反转综合征 基因突变 XX男性 XY女性 

分 类 号：R596.1[医药卫生—内科学]