一例遗传性多发性骨软骨瘤患者的基因突变分析  

Analysis of gene mutation in a patient with hereditary multiple exostoses

作　　者：杨慧芳[1] 周永安[2] 赵晓丽[1] 李国柱[1] 马云霞[2] 郝子琪[2] 夏丽 李长文 

机构地区：[1]山西医科大学第二临床医学院,太原030001 [2]太原市中心医院中心实验室,太原030009 [3]山西华信瑞安生物科技有限公司,太原030000

出　　处：《中国优生与遗传杂志》2015年第1期21-22,118,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的对1例遗传性多发性骨软骨瘤患者进行相关基因的突变检测,以寻找致病位点。方法采集患者及其家系成员的外周血标本,提取其全基因组DNA,用PCR对EXT1和EXT2基因的所有外显子进行扩增并测序,测序结果在Gen Bank上比对分析。结果患者:EXT1基因中发现一种内含子突变(c.1721+203T>TC),EXT2基因中发现三种内含子突变(c.1526-195C>T、c.1807-51T>C、c.1936-41T>C)。父亲:EXT1(c.1721+203T>TC)、EXT2(c.1526-195C>T、c.1807-51T>C、c.1936-41T>C),母亲:EXT2(c.1807-51T>CT),妹妹:EXT2(c.1807-51T>C)。结论通过对患者进行EXT1、EXT2基因的所有外显子扩增并测序分析,未发现明确的致病位点,该患者的发病是否由除EXT1、EXT2基因以外的其他相关基因突变引起,还需进一步的连锁定位分析。Objective： Related gene mutation testing was applied to one patient with hereditary multiple exostoses to screen for potential mutations. Methods： All exons of EXT1 and EXT2 genes for genomic DNA extracted from the collected patient＇s and her family blood samples were amplified and sequenced using PCR and comparative analysis in GenBank to analyze the sequencing results. Results： Patient： One mutation in intron （c.172 1＋203T〉TC） was discovered in gene EXT1, and three kinds of mutations in intron （c.1526-195C〉T, c.1807-51T〉C, c.1936-41T〉C） were discovered in gene EXT2. Father： EXT1 （c.1721＋203T〉TC） , EXT2 （c.1526-195C〉T, c.1807-51T〉C, c.1936-41T〉C） , Mother： EXT2 （c.1807-51T〉CT） , Sister： EXT2 （c. 1807-51T〉C） . Conclusions： No clear causative loci was found through the amplifying and sequencing ＇all exon gene of gene EXT1 and EXT2 from the patient, so whether the onset of the patient was caused by gene mutations in addition to gene EXT1 and EXT2 needs further linkage analysis.

关 键 词：遗传性多发性骨软骨瘤 基因突变 EXT1基因 EXT2基因 

分 类 号：R738[医药卫生—肿瘤]