瘢痕疙瘩成纤维细胞p53基因突变的研究

Experimental study on p53 gene mutation in keloid fibroblasts

目的 探讨瘢痕疙瘩成纤维细胞中 p5 3基因第 4～ 8外显子的突变规律及其意义。 方法 取瘢痕患者手术切除的瘢痕疙瘩和增生性瘢痕标本各 12例 ,并设患者自身正常皮肤标本及血标本为对照。体外分离、培养上述组织标本的成纤维细胞。采用聚合酶链式反应 单链构象多态性(PCR SSCP)分析方法和基因测序法 ,检测各种组织成纤维细胞中p5 3基因的突变情况。 结果 12例瘢痕疙瘩标本中有 9例p5 3基因外显子 4、5、6、7出现点突变和移码突变 ,增生性瘢痕标本、正常皮肤标本及血标本中均未检出突变。 结论 p5 3基因突变是瘢痕疙瘩形成和发展的重要因素之一。

Objective To explore the significance and the role of the p53 gene mutation in the exon 4 to 8 in keloid fibroblasts. Methods Tissue samples from twelve patients with keloid and twelve hyperplastic scar respectively were harvested for in vitro culture of fibroblasts, and normal skin samples from the same patients were employed as the control. Polymerase chain reaction-based single-strained conformational polymorphism (PCR-SSCP) and DNA sequencing were employed to detect p53 gene mutations of the fibroblasts. Results The points and frameshift mutations in the exon 4,5,6,7 of p53 gene were identified in 9 of the 12 keloid tissue samples. No p53 gene mutation was detected in all hyperplastic scar and normal skin samples.Conclusion p53 gene mutation might play an important role in the formation and development of keloids.