瘢痕疙瘩家系Fas基因的突变:2个家系10份标本分析

Fas gene mutation in 10 samples of two keloid pedigrees

目的:观察瘢痕疙瘩家系样本中Fas基因有无突变,探讨Fas基因突变在瘢痕疙瘩形成中的意义。方法:实验于2005-01/05在上海基康公司完成。①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,所有参与观察的家系成员均签署知情同意书。②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观察对象,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间的对照。共取10份样本,4份组织样本,6份静脉血标本。检测10份样本中Fas基因外显子1～9的基因序列。结果:①基因测序发现所检测的10个瘢痕疙瘩家系标本Fas基因的1～8外显子均未发现突变。②2份瘢痕疙瘩组织标本在第9外显子编码区的11bp,53bp两个位点上存在单个碱基的基因突变或多态性改变。结论:瘢痕疙瘩Fas基因外显子9区段的基因结构异常极有可能造成Fas蛋白的功能改变,从而导致身体局部瘢痕疙瘩的形成。

AIM： To detect the Fas gene mutations （exons 1-9） in samples of keloid pedigrees, and explore the significance of Fas gene mutations in keloid formation. METHODS： The experiment was performed in Shanghai Jikang Company from January to May 2005. （1）The samples from A and B keloid pedigrees were selected from Department of Plastic Surgery, Nanfang Hospital, Southern Medical University in 2005. The informed consent was obtained from the family members. （2）The polymerase chain reaction （PCR） and DNA sequencing analysis technique were used. The keloid tissues of two cases from A pedigree served as the subjects, their peripheral venous blood and normal surrounding skin as their self-control, and their spouses＇ penpheral venous blood as normal control. The peripheral venous blood of two patients from B pedigree acted as a control between two keloid pedigrees. Gene sequence of Fas gene （exons 1-9） from all 10 samples （4 tissue samples and 6 blood samples） was tested, RESULTS： （1）DNA sequencing analysis suggested that there was no gene mutation in Fas gene exons 1-8 in all samples A and B. （2）Point mutations in Fas gene exon 9 were identified in 11 bp and 53 bp in two keloid tissue samples. CONCLUSION： Gene structural abnormity of Fas gene exon 9 in the two samples from A and B keloid pedigrees may cause the functional changes in Fas protein, and lead to local keloid formation.