一个甲基丙二酸血症家庭的MUT基因突变研究  

A FAMILY WITH METHYLMALONIC ACIDEMIA:STUDY OF MUT GENE MUTATION

作　　者：刘畅[1] 王庆华 臧玉翠[3] 李爱芹[4] 阎胜利[1] 刘世国[3] 

机构地区：[1]青岛大学附属医院内分泌与代谢病科,山东青岛266003 [2]菏泽市妇幼保健院新生儿疾病筛查中心 [3]青岛大学附属医院产前诊断中心 [4]青岛大学附属医院门急诊部

出　　处：《青岛大学医学院学报》2016年第4期432-434,共3页Acta Academiae Medicinae Qingdao Universitatis

摘　　要：目的检测甲基丙二酸血症(MMA)病儿父母的甲基丙二酰辅酶A变位酶(MUT)基因突变类型。方法采用全基因组外显子测序技术(WES)对1例单纯性MMA病儿父母MUT基因进行检测。结果病儿父亲MUT基因发生了错义突变(c.1106G>A),导致p.Arg369His;病儿母亲MUT基因发生了框移突变(c.2075_2081),导致p.Leu692ArgfsX11。结论病儿父母均为MMA携带者。Objective To investigate the MUT gene mutation in parents of a patient with methylmalonic acidemia（MMA）. Methods Using whole exome sequencing（WES）technique,MUT gene mutations in isolate MMA patient＇s parents was detected. Results The c.1106G〉A was detected in patient＇s father,which lead to p.Arg369His;the c.2075_2081was detected in patient＇s mother,which lead to p.Leu692ArgfsX11. Conclusion The parents of the patient are heyerozygous mutation carriers.

关 键 词：甲基丙二酸血症 甲基丙二酸单酰CoA变位酶 突变 多位点测序分型 

分 类 号：R722.1[医药卫生—儿科]