Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia.

ABSTRACT:

Aims/introduction

To investigate the clinical and genetic characteristics of Chinese patients with a phenotype consistent with maturity-onset diabetes of the young type 2 and explore the pathogenic mechanism of their hyperglycemia.

Materials and methods

We studied 12 probands and their extended families referred to our center for screening mutations in the glucokinase gene (GCK). Clinical data were collected and genetic analysis was carried out. The recombinant wild-type and mutant glucokinase were generated in Escherichia coli. The kinetic parameters and thermal stability of the enzymes were determined in vitro.

Results

In the 12 families, 11 GCK mutations (R43C, T168A, K169N, R191W, Y215X, E221K, M235T, R250H, W257X, G261R and A379E) and one variant of uncertain sig

SUBMITTER: Wang Z 

PROVIDER: S-EPMC6626954 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature