Brief Genetics Report: Mutation in the HNF-4α Gene Affects Insulin Secretion and Triglyceride Metabolism

摘要

Maturity-onset diabetes of the young (MODY) is a subtype of NIDDM, which is inherited in an autosomal dominant fashion and is expressed at an early age (1). The first positive linkage to chromosome 20 (MODY1) was described in 1991, when it was found in the RW family, whose members had early-onset dia- betes (2). The finding that a hepatocyte nuclear factor (HNF)- 4α gene mutation (Q268X) cosegregated with early-onset diabetes in the RW family initiated screening for MODY1 gene mutations in other populations (3).