瘢痕疙瘩家系外周血Smad2基因的突变检测  

Detection of smad2 gene mutation in a Han Chinese keloid pedigree

作　　者：宋玫[1] 高建华[2] 刘晓军[2] 严欣[2] 

机构地区：[1]兰州军区总医院烧伤整形科,甘肃兰州730050 [2]南方医科大学南方医院整形美容中心

出　　处：《中国美容整形外科杂志》2009年第3期179-182,共4页Chinese Journal of Aesthetic and Plastic Surgery

摘　　要：目的对一瘢痕疙瘩家系进行Smad2基因的突变检测，以明确Smad2基因突变是否与这一家系发病有关。方法以瘢痕疙瘩家系中4个患者的瘢痕疙瘩组织及其周围正常皮肤、外周血为研究对象，以其配偶的外周血为正常对照，采用PCR及基因序列分析，对所有标本的Smad2基因的所有外显子进行突变检测。结果基因测序在所有标本中Smad2基因的1～11外显子及其邻近内含子均未发现突变。结论此瘢痕疙瘩家系的致病基因，可能不是Smad2基因。Objective To investigate gene mutations of candidate gene Smad2 in a Chinese keloid pedigree to further make sure the relationship between the gene and the Smad2 gene mutations. Methods Samples of keloidal tissue, normal skin tissue around the keloid were selected and peripheral vein blood was harvested from 4 cases for genetic analysis in this pedigree and the peripheral vein blood from their spouses was also harvested as the control group. The polymerase chain reaction （PCR） and direct DNA sequencing analysis technique were used to detect gene mutations of Smad2 gene. Results Gene mutations in Smad2 gene exon 1 - 11 and intron around them were not identified in all samples. Conclusion The Smad2 gene is not a possible susecptibility gene of this Chinese pedigree.

关 键 词：瘢痕疙瘩 家系 SMAD2基因 突变 

分 类 号：R619.6[医药卫生—外科学]