【摘要】 目的对一假性软骨发育不全(PSACH)家系进行软骨寡聚基质蛋白(COMP)基因突变分析。方法2008年10月于北京协和医院儿科遗传门诊采集该家系中患者及正常人血样,提取DNA,用聚合酶链反应扩增COMP基因外显子8-19,并对扩增产物进行直接测序,确定突变位点。结果家系中患病父子都存在COMP基因外显子8中c.815T>C突变,为已知突变。结论该家系中患者发病是由COMP基因突变所致。更多还原

【Abstract】 Objective To perform mutation analysis in a pseudoachondroplasia (PSACH) family. Methods Mutation screening was carried out by DNA-PCR and direct sequencing the exons 8 to 19 of COMP gene. Results A c.815C > T substitution was identified in exon 8 of COMP gene in the proband and his affected father and brother. Conclusion The disease in the family is caused by mutation of COMP gene.更多还原