巴西具有临床MODY表型个体中MODY2和MODY3突变的低患病率。
Low prevalence of MODY2 and MODY3 mutations in Brazilian individuals with clinical MODY phenotype.
作者信息
Furuzawa Gilberto K, Giuffrida Fernando M A, Oliveira Carolina S V, Chacra Antonio R, Dib Sergio A, Reis André F
机构信息
Division of Diabetes, Molecular Endocrinology Laboratory, Federal University of São Paulo, São Paulo, Brazil.
出版信息
Diabetes Res Clin Pract. 2008 Sep;81(3):e12-4. doi: 10.1016/j.diabres.2008.06.011. Epub 2008 Jul 30.
Prevalence of MODY2 and MODY3 mutations has been assessed in 23 Brazilian families with MODY phenotype. Mutations in HNF-1alpha have been found in 3 families (13%) and 2 families (8.7%) had new glucokinase mutations. These genes do not explain the majority of MODY cases in Brazilian population.
已对23个具有青少年发病的成年型糖尿病（MODY）表型的巴西家庭进行了MODY2和MODY3突变患病率评估。在3个家庭（13%）中发现了肝细胞核因子-1α（HNF-1α）突变，2个家庭（8.7%）有新的葡萄糖激酶突变。这些基因并不能解释巴西人群中大多数的MODY病例。
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