编码瘢痕疙瘩中成纤维细胞Fas的基因结构

背景瘢痕疙瘩是损伤愈合过程的结果,是带有突变基因的成纤维细胞寿命延长,是大量积聚及产生过量的胶原纤维形成的.目的探讨编码瘢痕疙瘩组织中成纤维细胞Fas基因外显子7-9的结构关系.设计以瘢痕组织为研究对象,自身对照.单位解放军第一军医大学南方医院整形外科.对象实验于2001在解放军第一军医大学热带病研究所完成.所有瘢痕疙瘩和增生性瘢痕组织及外周血均取自南方医院整形外科手术患者.瘢痕疙瘩患者15例,增生性瘢痕患者12例.以瘢痕疙瘩患者自身正常皮肤、外周血为自身对照;以增生性瘢痕患者病变组织及其正常皮肤、外周血为正常对照.干预采用聚合酶链反应-单链构象多态银染技术,检测15例瘢痕疙瘩标本Fas基因外显子7-9的基因结构.主要观察指标检测各组标本中Fas基因外显子7-9的基因结构.结果所检测的15例瘢痕疙瘩患者100%有Fas基因外显子8的杂和丢失异常.20%有外显子9等位基因条带增多,存在基因突变.结论增生性瘢痕和正常皮肤及外周血Fas基因结构无变异,瘢痕疙瘩Fas基因外显子8,9区段的基因结构异常,与其编码的蛋白无功能关系密切.

The genetic structure of the fibroblastic Fas in keloid

BACKGROUND:Keloid is the outcome of wound-healing process,and the result of massive accumulation of life-prolonged fibroblasts with gene mutation as well as the excessive synthesis of collagenous fibers.OBJECTIVE:To probe into the structural relations of exons 7-9 of fibroblastic Fas gene in keloid tissues.DESIGN:A self-controlled experimental study with cicatricial tissues as the subjects.SETTING:Department of Plastic Surgery of Southern Hospital of the First Military Medical University of Chinese PLA.PARTICIPANTS:This experiment was carried out at the Tropical Disease Research Institute of the First Military Medical University of Chinese PLA in 2001. All keloid and hypertrophic scar tissues were obtained from the patients who received orthopedic surgical operations at the Southern Hospital, including 15 patients with keloid and 12 patients with hypertrophic Scars. Normal skin and peripheral blood were obtained from the keloid patients as self-control. Meanwhile pathological tissues and normal skin and peripheral blood were obtained from patients with hypertrophic scars as normal control.INTERVENTION:PCR-single strand conformation polymorphism was used to find the structure of the exons 7-9 in Fas gene in15 patients with keloid.MAIN OUTCOME MEASURES:The structure of the exons 7-9 in Fas gene.RESULTS:Heterozygous loss of Fas gene exon-8 was observed in all the 15 keloid patients, and 20% of them displayed an increase in exon-9 allele band.CONCLUSION: The genetic structure of Fas gene showed no mutation in hypertrophic scars, normal skin and the peripheral blood,but mutations were detected in exons-8 ,and -9 of Fas gene in keloid. This was closely related with the disfunction of its encoded proteins.