甲基丙二酸尿症一家系MMACHC基因突变分析
갑기병이산뇨증일가계MMACHC기인돌변분석
Mutation analysis of the MMACHC gene in a pedigree with methyimalonic aciduria
  • 万方数据
    中华医学遗传学杂志 중화의학유전학잡지
    CHINESE JOURNAL OF MEDICAL GENETICS
    2009年 1期 62-65 ,共4页

    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

    당휘%학호%탕소휘%진현%류방%사경병%리월금%리홍검%손량%여명%초흔%주천홍

    甲基丙二酸尿症%甲基丙二酸尿症基因%基因突变 甲基丙二痠尿癥%甲基丙二痠尿癥基因%基因突變
    갑기병이산뇨증%갑기병이산뇨증기인%기인돌변
    methylmalonic aciduria%MMACHC gene%gene mutation
    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.
    목적 연구갑기병이산뇨증(methymalonic aciduria,MMA)MMACHC기강적돌변.방법 응용취합매련반응급DNA직접측서기술대갑기병이산뇨증일가계진행MMACHC기인돌변위점검측,병여50명건강인적MMACHC기강진행대조.결과 환자급기부친적MMACHC기인중검측도일개신적정마돌변,MMACHC기인제2외현자146_154결실CCTTCCTGG,도치P.49_51위결실병안산분병안산량안산(AFL),50명대조자적등위기인무차돌변.결론 MMACHC기인적146_154결실CCTTCCTGG야가능시해가계인기갑기병이산뇨증적병인.
    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.
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