瘢痕疙瘩家系Fas基因死亡域突变的实验研究

EXPERIMENTAL STUDY ON FAS GENE DEATH DOMAIN MUTATIONS IN KELOID PEDIGREES

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。

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 15 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.