瘢痕疙瘩家系p53基因的突变  

p53 gene mutations in keloid pedigrees

作　　者：刘晓军[1] 高建华[1] 刘永波[1] 

机构地区：[1]南方医科大学南方医院整形外科,广东省广州市510515

出　　处：《中国组织工程研究与临床康复》2007年第2期314-316,320,共4页Journal of Clinical Rehabilitative Tissue Engineering Research

基　　金：国家自然科学基金资助(39870807)~~

摘　　要：目的:探讨瘢痕疙瘩家系样本有无p53基因突变以及与瘢痕疙瘩发病的关系。方法:实验标本来自南方医科大学南方医院整形外科2005年收集的A和B两个瘢痕疙瘩家系。2005-01/05在上海基康公司采用聚合酶链反应及基因测序技术,分别以A家系两例患者的瘢痕疙瘩组织为研究对象,以其周围正常皮肤及外周静脉血作为自身对照。其配偶的外周静脉血作为正常对照,并以B家系中两例患者的外周静脉血作为不同家系之间的对照。检测10份样本中p53基因外显子1～11的基因序列。结果:①经基因序列分析发现所有被检测样本p53基因外显子1～10均未发现突变。②p53基因外显子11在所有的被检测样本中均发现突变,而且突变的位点及突变的类型均相同。其中119 bp,577 bp,604 bp,626 bp,627 bp,726 bp,727 bp,1148～1149 bp为点突变,440 bp为插入突变,397～400 bp,600 bp,602 bp,605～607 bp,609 bp为缺失突变。结论:瘢痕疙瘩家系样本p53基因突变提示p53基因的突变可能与瘢痕疙瘩的发病无关。AIM： To explore gene mutations of p53 gene in samples of keloid pedigrees and the relation of keloid onset. METHODS： The experimental samples from. A and B keloid pedigrees were selected from Department of Plastic Surgety, Nanfang Hospital, Southern Medical University in 2005. The polymerase chain reaction （PCR） and DNA sequencing analysis technique were used in Shanghai Jikang Company between January and May 2005, A pedigree of two cases respectively keloid tissues for the study, their peripheral vein blood and their surrounding normal skin as their own contrast, their spouses＇ peripheral vein blood as normal contrast, the two cases of patient＇s peripheral vein blood in B pedigree as a contrast between different keloid pedigree. Gene orders of p53 gene （exon 1-11） from all of 10 samples were tested. RESULTS; ①Gene sequence analysis showed that gene mutations in p 53 gene exon 1-10 werenot identified in allof the tested samples. ②Gene mutations in p53 gene exon 11 were identified in all samples, which had the same type and site. Point mutation were found in 119 bp, 577 bp, 604 bp, 626 bp, 627 bp, 726 bp, 727 bp. 1 146-1 149 bp. Insertion mutation in 440 bp, and missing mutation were found in 397-400 bp, 600 bp, 602 bp, 605-607 bp, 609 bp. CONCLUSION： p53 gene mutations in the samples of keloid pedigrees maybe indicate no relations between p53 gene mutations and kellod formation.

关 键 词：瘢痕疙瘩 基因 P53 基因 突变 

分 类 号：R349.6[医药卫生—基础医学]