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