瘢痕疙瘩家系Fas基因死亡域突变的实验研究

目的 探讨瘢痕疙瘩家系标本中Fas基因（外显子7～9）有无突变以及Fas基因突变在瘢痕疙瘩形成中的意义。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、B两个瘢痕疙瘩家系。采用PCR及基因测序技术，分别以A家系2例男性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2例患者（母亲与儿子）的外周静脉血作为不同家系之间的对照，共检测10份标本中Fas基因外显子7～9基因序列。结果 10份瘢痕疙瘩家系标本Fas基因的7、8外显子均未发生突变，2例瘢痕疙瘩组织标本均在外显子9编码区的11bp和53bp两个位点上存在单个碱基基因突变或多态性改变。结论 瘢痕疙瘩Fas基因死亡域外显子9区段的基因结构异常，极有可能与Fas蛋白的功能改变有关，从而导致局部瘢痕疙瘩形成。

EXPERIMENTAL STUDY ON FAS GENE DEATH DOMAIN MUTATIONS IN KELOID PEDIGREES

Objective To detect gene mutations of Fas gene death domain(exons 7-9)in 2 Chinese keloid pedigrees and to investigate the significance of Fas gene mutations in the keloid formation.Methods The samples were selected from keloid pedigrees A and B in 2005.The polymerase chain reaction and DNA sequencing analysis technique were used to detect the sequence of exons 7-9 of Fas gene from keloid tissues of 2 male patients in pedigree A,their peripheral vein blood and their surrounding normal skin served as their own contrast,their spouses' peripheral vein blood served as normal contrast,the peripheral vein blood of 2 patients in pedigree B served as a contrast between different keloid pedigrees.Results No gene mutations and single nucleotide polymorphism in Fas gene exons 7,8 were found in all samples from pedigrees A and B.But point mutations and single nucleotide polymorphism in Fas gene exon 9 were identified in 11 bp and 53 bp in 2 keloid tissue samples from Chinese keloid pedigree A.Conclusion Fas gene point mutations maybe indicate some relations in Fas protein function and keloid formation.