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以前的研究提示：瘢痕疙瘩成纤维细胞的Ｆａｓ 受体可能处于无功能状态。进一步探讨导致无功能Ｆａｓ分子的可能机制。取瘢痕疙瘩、增生性瘢痕患者的组织及外周血标本，ＰＣＲ特异性扩增Ｆａｓ 分子外显子９ 的编码区，扩增产物经银染ＳＳＣＰ筛选，最后可疑阳性的ＰＣＲ样本进行ＤＮＡ 测序。经ＰＣＲ－ＳＳＣＰ检测，２０％ （２／１０）的瘢痕疙瘩组织中发现异常电泳带，经ＤＮＡ 测序证实，这２ 例突变均为位于Ｆａｓ ｃＤＮＡ的７５５ｂｐ 处的“Ａ”缺失而导致的移码突变。结果提示：编码Ｆａｓ分子死亡域结构基因的移码突变可能导致Ｆａｓ受体功能丧失，从而导致成纤维细胞的凋亡异常；该研究从基因水平阐述了瘢痕疙瘩发生的分子机制，为今后的基因诊断和治疗提供有力的理论及实验支持
Previous studies suggest that Fas receptors in keloid fibroblasts may be in a non-functional state. Further explore the possible mechanisms leading to non-functional Fas molecules. Tissues of keloids and hypertrophic scars were collected. PCR was used to amplify the coding region of exon 9 of Fas molecule. The amplified product was screened by silver-staining SSCP. Finally, DNA samples were obtained from suspected PCR-positive samples. According to the results of PCR-SSCP, abnormal electrophoresis bands were found in 20% (2/10) keloid tissues. DNA sequencing confirmed that these two mutations were the frameshift caused by the deletion of “A” located at 755bp of Fas cDNA mutation. The results suggest that the frameshift mutation in the structural domain of Fas molecule may result in the loss of Fas receptor function, leading to the abnormal apoptosis of fibroblasts. The molecular mechanism of keloid development is elucidated at the gene level, Diagnosis and treatment to provide a strong theoretical and experimental support