瘢痕疙瘩Fas基因外显子1—6基因突变的检测

目的 检测Fas基因外显子1-6，探讨Fas凋亡基因在瘢痕疙瘩组织中的结构异常与临床病理的关系。方法 采用PCR银染技术，检测15例瘢痕疙瘩标本Fas外显子1-6的基因结构。结果 所检测的15例瘢痕疙瘩，2例Fas基因外显子6出现电泳条带增多，测序证实存在基因突变，为插入突变与点突变的混合型突变，且经同源性分析为一新突变位点。结论 少数瘢痕疙瘩病例Fas凋亡基因编码的蛋白无功能可能与其编码跨膜区的基因结构异常有关。

Detection and analysis of Fas gene (exon 1-6) mutations in keloids]

OBJECTIVE: To detect Fas DNA mutations (exon 1-6) in the fibroblasts of patients with keloids, thereby to understand the clinicopathological implications of altered structure of the keloids. METHODS: PCR followed by single-strand conformational polymorphism analysis and direct DNA sequencing were used to detect Fas gene mutations in 15 patients with keloids. RESULTS: Insertion and point mutations were identified on the boundary between intron 5 and exon 6 in two patients, while no Fas mutations were found in the fibroblasts derived from normal skin samples of any of the patients. CONCLUSION: Nonfunction of Fas protein may be related to aberrant gene structure that codes for the transmembrane domain.