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。
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.
出处
《中国实用儿科杂志》
CSCD
北大核心
2010年第4期289-291,共3页
Chinese Journal of Practical Pediatrics
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
