一例汉族瘢痕疙瘩家系全基因组重测序结果及初步分析  

Whole-genome sequencing on one case of Han familial keloids

作　　者：滕国栋[1,2] 陈敏亮[2] 刘畅[2] 梁黎明[2] 

机构地区：[1]解放军第401医院手外科,青岛266071 [2]解放军总医院第一附属医院烧伤整形外科四病区

出　　处：《中华整形外科杂志》2016年第1期52-55,共4页Chinese Journal of Plastic Surgery

基　　金：National Natural Science Foundation of China(81272103)国家自然科学基金

摘　　要：目的通过对瘢痕疙瘩家系进行全基因组重测序筛选与疾病相关的单核苷酸多态性信息。方法收集瘢痕疙瘩家系资料，绘制家系图谱；选取家系特定成员外周血样，提取DNA进行全基因组重测序并设计软件分析比对，筛选相关突变位点及致病基因。结果本例瘢痕疙瘩家系遗传稳定，筛选出疾病相关的单核苷酸多态性27个，筛选出8个基因与瘢痕疙瘩发病机制密切相关。结论全基因组重测序技术可以筛选出新的与瘢痕疙瘩相关的基因突变信息，为瘢痕疙瘩的病因研究提供一种新的途径和方法。Objective To screen SNP information of keloid pedigrees through whole genome sequencing. Methods We Collected information and clinical data of the keloid pedigree and constructed charts of the pedigree. The DNA was extracted from peripheral venous blood samples of the pedigree to sequence the whole genome. Results 27 SNP and 8 disease-associated genes were screened out. Conclusions Whole genome sequencing technology can select new genetic mutations associated with keloid, and provide a new way for the research of keloid.

关 键 词：瘢痕疙瘩 家系 全基因组重测序 单核苷酸多态性 基因 

分 类 号：R622[医药卫生—整形外科]