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| 甲基丙二酸尿症一家系MMACHC基因突变分析 | |
| 引用本文： | 唐晖,郝虎,汤绍辉,陈炫,刘芳,查庆兵,李月琴,李弘剑,孙亮,余明,肖昕,周天鸿.甲基丙二酸尿症一家系MMACHC基因突变分析[J].中华医学遗传学杂志,2009,26(1). |
| 作者姓名： | 唐晖 郝虎 汤绍辉 陈炫 刘芳 查庆兵 李月琴 李弘剑 孙亮 余明 肖昕 周天鸿 |
| 作者单位： | 1. 暨南大学附属第一医院临床实验中心,广州,510632 2. 中山大学附属第六医院儿科 3. 生命科学技术学院,广州,510632 |
| 摘 要： | 目的 研究甲基丙二酸尿症(methymalonic aciduria,MMA)MMACHC基冈的突变.方法 应用聚合酶链反应及DNA直接测序技术对甲基丙二酸尿症一家系进行MMACHC基因突变位点检测,并与50名健康人的MMACHC基冈进行对照.结果 患者及其父亲的MMACHC基因中检测到一个新的整码突变,MMACHC基因第2外显子146_154缺失CCTTCCTGG,导致P.49_51位缺失丙氨酸苯丙氨酸亮氨酸(AFL),50名对照者的等位基因无此突变.结论 MMACHC基因的146_154缺失CCTTCCTGG也可能是该家系引起甲基丙二酸尿症的病因. |
| 关 键 词： | 甲基丙二酸尿症 甲基丙二酸尿症基因 基因突变 |
Mutation analysis of the MMACHC gene in a pedigree with methyimalonic aciduria |
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| TANG Hui,HAO Hu,TANG Shao-hui,CHEN Xuan,LIU Fang,CHA Qing-bing,LI Yue-qin,LI Hong-jian,SUN Liang,YU Ming,XIAO Xin,ZHOU Tian-hong.Mutation analysis of the MMACHC gene in a pedigree with methyimalonic aciduria[J].Chinese Journal of Medical Genetics,2009,26(1). | |
| Authors: | TANG Hui HAO Hu TANG Shao-hui CHEN Xuan LIU Fang CHA Qing-bing LI Yue-qin LI Hong-jian SUN Liang YU Ming XIAO Xin ZHOU Tian-hong |
| Abstract: | Objective To identify the mutation of the methylmalonic aciduria(cobalamin deficiency)Cb1C type,with homoeystinuria(MMACHC)gene in a pedigree with methylmalonic aciduria.Methods The MMACHC gene mutation was detected using polymerase chain reaction(PCR)and DNA sequencing.The MMACHC gene of 50 healthy people was also sequenced as contr01.ResultsA new mutation of 146 154 del CCTTCCTGG was found in the patient and his father,and was absent in the controls.Conclusion A new mutation(146 154 del CCTTCCTGG)in the MMACHC gene was detected in a Chinese family with methylmalonic aciduria. |
| Keywords: | methylmalonic aciduria MMACHC gene gene mutation |
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