遗传性多发性骨软骨瘤基因型和临床表型相关性分析  

The correlation analysis of genotype and clinical phenotype in hereditary multiple exostoses

作　　者：李玉婵[1] 王志刚[1] 王剑[2] 郁婷婷[2] 

机构地区：[1]上海交通大学医学院附属上海儿童医学中心骨科,200127 [2]上海交通大学医学院附属上海儿童医学中心实验诊断中心,200127

出　　处：《中华小儿外科杂志》2011年第10期769-773,共5页Chinese Journal of Pediatric Surgery

摘　　要：目的 遗传性多发性骨软骨瘤（HME）是常染色体显性遗传性疾病,目前认为HME可能与分别位于人类染色体8q、11p和19p的EXT1、EXT2和EXT3基因有关.本文主要探讨多发性骨软骨瘤病不同基因突变与患儿不同临床表现之间的关系.方法 自2008年8月至2010年3月,有19例多发性骨软骨瘤患儿的血液标本利用PCR和MPLA进行基因分析.根据患儿的发病年龄、肿瘤累及的关节及单个骨上的肿瘤数量以及肢体功能对患儿罹患肿瘤的严重程度进行评估,并以此将患儿分为轻、重两组.结果 2例患儿利用现有检查方法未发现突变基因,其余17例HME患儿中11例为EXT1基因突变,其中6例为严重型患儿,5例患儿为轻症；6例EXT2基因突变患儿中2例为严重患儿,4例患儿为轻症.结论 本组病例除身高外（P=0.0067）,未在不同EXT基因突变与临床表现之间发现有明显关系（P=0.3733）,进一步深入研究将有助于探索HME的致病机制.Objective To analyze the correlation of different genotype and the clinical phenotype of multiple osteochondromatosis.Methods Between Aug 2008 and March 2010,19 patients with multiple osteochondromatosis accepted genotyping investigated by PCR or MPLA.They were graded according to the four factors of patient：age at onset,number of involved joints,number of exostoses at each bone,and deformity and malfunction of involved joint.The patients were then divided into severe （S） and mild （M） group.Results Two patients showed negative results in genotyping,11 of the other 17 patients were found EXT1 mutation,including 6 patients in group S while 5 in group M.Two patients out of 6 patients with ET2 mutation were in group S while 4 in group M.Conclusions Except height,there was no obviously significant difference between the EXT gene mutation and clinical phenotype.Further researches are needed to discover the pathogenesis of multiple osteochondromatosis.

关 键 词：骨软骨瘤 多发性 基因型 

分 类 号：R738[医药卫生—肿瘤]