Identification and functional analysis of c.422_423InsT, a novel mutation of the HNF1A gene in a patient with diabetes.

ABSTRACT:

Background

HNF1A gene regulates liver-specific genes, and genes that have a role in glucose metabolism, transport, and secretion of insulin. HNF1A gene mutations are frequently associated with type 2 diabetes. HNF1A protein has three domains: the dimerization domain, the DNA-binding domain, and the trans-activation domain. Some mutations in the dimerization or DNA-binding domains have no influence on the normal allele, while others have dominant negative effects. The I27L, A98V, and S487N polymorphisms are common variants of the HNF1A gene; they have been found in T2D and non-diabetic subjects.

Methods and results

We searched for mutations in the first three exons of the HNF1A gen in an Amerindian population of 71 diabetic patients. DNA sequencing

SUBMITTER: Magana-Cerino JM 

PROVIDER: S-EPMC5241209 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature