β-Cell genes and diabetes molecular and clinical characterization of mutations in transcription factors

摘要

β-Cell transcription factor genes are important in the pathophsiology of theβ-cell, with mutations in hepa- tocyte nuclear factor(HNF)-1α, HNF-4α, insulin pro- moter factor(IPF)-1, HNF-1β, and NeuroD1/BETA2, all resulting in early-onset type 2 diabetes. We assessed the relative contribution of these genes to early-onset type 2 diabetes using linkage and sequencing analysis in a cohort of 101 families(95/100, U.K. Caucasian). The relative distribution of the 90 families fitting maturity- onset diabetes of the young(MODY)criteria was 63/100 HNF-1α,2/100 HNF-4α, 0/100 IPF-1, 1/00 HNF-1β, 0/100 NeuroD1/ BETA2, and 20/100 glucokinase.