中国人雄激素受体N端转录激活区的测序及突变检测  

Mutations in the N-terminal Transcriptional Activation Region of Androgen Receptor in the Chinese

作　　者：于小玲[1] 王晓慧[2] 陈光椿[2] 赵子文[1] 卢建[2] 

机构地区：[1]山东滨州医学院病理生理教研室,滨州256603 [2]第二军医大学病理生理教研室,上海200433

出　　处：《生物化学与生物物理学报》2000年第5期459-462,共4页

基　　金：国家自然科学基金资助项目 !No .3 9670 3 0 0&&

摘　　要：雄激素受体 (androgenreceptor,AR)N端转录激活功能区 (AF1)是AR发挥转录激活功能所必需的。用 4对引物 (A3 ～A6)PCR扩增 2 0例中国正常男性AR的AF1,双链DNA循环测序以确定正常中国人AR的AF1的核苷酸顺序。在此基础上 ,用PCR SSCP分析和双链DNA循环测序法对 2例雄激素抵抗征 (AIS)患者外周血白细胞和 15例前列腺癌 (PC)患者癌组织中AR的AF1区进行突变检测。发现正常中国人AR的AF1序列与欧美报道的完全一致 ;在一低分化PC患者石蜡切片组织中 (PC2 8)发现有一AF1的错义突变 (C96 6A ,Ser2 96Arg)。这表明正常中国人AR的AF1序列与欧美人无差别 ;PC组织中存在ARN端转录激活区的突变。Activation function (AF1) region of N-terminal domain of androgen re ceptor (AR) is necessary for the transcriptional activation function of AR. The sequences of AF1 in twenty normal Chinese were amplified by PCR and determined b y direct dsDNA cycle sequencing. Based on this, the mutations in AF1 of AR in pa tients with androgen insensitivity syndrome(AIS) or prostate cancer(PC) were scr eened by a combination of single strand conformation polymorphism(SSCP) analysis and direct dsDNA cycle sequencing. The sequences between normal Chinese and oth er races were identical and one point mutation (C966A, Ser296Arg), which had not been reported so far, was identified in a patient with prostate cancer with poo r differentiation. That suggests alteration of structure and function in AF1 of N-terminal domain of AR might be relative with PC progression of some patients.

关 键 词：雄激素受体 N端区 基因突变 

分 类 号：Q754[生物学—分子生物学] Q986