Liu Xiaojun, Gao Jianhua, Li Xuelei
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2007 Jul;21(7):698-701.
To detect gene mutations of Fas gene death domain (exons 79) in 2 Chinese keloid pedigrees and to investigate the significance of Fa gene mutations in the keloid formation.
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 B served as a contrast between different keloid pedigrees.
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.
Fas gene point mutations maybe indicate some relations in Fas protein function and keloid formation.
检测2个中国瘢痕疙瘩家系中Fas基因死亡结构域（外显子7-9）的基因突变情况，探讨Fas基因突变在瘢痕疙瘩形成中的意义。
2005年选取瘢痕疙瘩家系A和家系B的样本。采用聚合酶链反应和DNA测序分析技术，检测家系A中2例男性患者瘢痕疙瘩组织、其外周静脉血及其周围正常皮肤中Fas基因外显子7-9的序列，以其自身外周静脉血和周围正常皮肤作为自身对照，其配偶外周静脉血作为正常对照，家系B中2例患者外周静脉血作为不同瘢痕疙瘩家系之间的对照。
家系A和家系B所有样本的Fas基因外显子7、8均未发现基因突变和单核苷酸多态性。但在中国瘢痕疙瘩家系A的2个瘢痕疙瘩组织样本中，Fas基因外显子9在11 bp和53 bp处存在点突变和单核苷酸多态性。
Fas基因点突变可能提示Fas蛋白功能与瘢痕疙瘩形成之间存在某种关系。
