一名患有甲基丙二酸血症的泰国患者中的新突变。
Novel mutations in a Thai patient with methylmalonic acidemia.
作者信息
Champattanachai Voraratt, Ketudat Cairns James R, Shotelersuk Vorasuk, Keeratichamroen Siriporn, Sawangareetrakul Phannee, Srisomsap Chantragan, Kaewpaluek Verachai, Svasti Jisnuson
机构信息
Laboratory of Biochemistry, Chulabhorn Research Institute, Vipavadee-Rangsit Highway, Bangkok 10210, Thailand.
出版信息
Mol Genet Metab. 2003 Aug;79(4):300-2. doi: 10.1016/s1096-7192(03)00106-9.
A Thai patient with methylmalonic acidemia (MMA) and no methylmalonyl-CoA mutase (MCM, EC 5.4.99.2) activity in leukocytes in the presence of deoxyadenosyl cobalamin (mut(0)) was found to be heterozygous for two novel mutations: 1048delT and 1706_1707delGGinsTA (G544X), inherited from her mother and father, respectively. The proband was also heterozygous for the polymorphism, A499T, which did not affect the activity of recombinant MCM.
一名患有甲基丙二酸血症（MMA）的泰国患者，在脱氧腺苷钴胺素存在的情况下，白细胞中无甲基丙二酰辅酶A变位酶（MCM，EC 5.4.99.2）活性（mut(0)），被发现分别从其母亲和父亲那里遗传了两个新的突变：1048delT和1706_1707delGGinsTA（G544X），呈杂合状态。先证者对于多态性A499T也呈杂合状态，该多态性不影响重组MCM的活性。
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