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假性软骨发育不全一家系COMP基因突变分析
Gene mutation analysis in a pseudoachondroplasia(PSACH) family
【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。
【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.
【关键词】 假性软骨发育不全;
COMP基因;
突变;
序列分析;
【Key words】 pseudoachondroplasia; COMP gene; mutation; sequence analysis;
【Key words】 pseudoachondroplasia; COMP gene; mutation; sequence analysis;
【基金】 科技部“十一五”国家科技支撑计划项目(2006BAI05A08);北京市科学技术委员会研发攻关类基金资助项目(D0906005040491);国家人口计生委病残儿遗传学鉴定基金
- 【文献出处】 中国实用儿科杂志 ,Chinese Journal of Practical Pediatrics , 编辑部邮箱 ,2010年04期
- 【分类号】R725.9
- 【被引频次】8
- 【下载频次】260