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

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.