Molecular Biology and Genetics Core Laboratory – Services

Screening diabetic patients suspected of having maturity-onset diabetes of the young (MODY) for mutations in known MODY genes:
glucokinase, hepatocyte nuclear factor (HNF)-1a, HNF-1├č, HNF-4a, insulin promoter factor-1 and NeuroD1. The Core screens the known MODY genes (and any that may be identified in the future) as well as other diabetes-related genes for mutations. The user provides the Core with blood or DNA from the patient and the Core carries out the mutation screening. The Core provides the user with the mutation information and their interpretation.

Analyses of linkage (using both parametric and nonparametric approaches) and association.
The Core provides advice and assists users in analyzing genetic data including linkage analyses (both parametric and nonparametric analysis) using LINKAGE, GENEHUNTER, ALLEGRO, ASPEX, SPLINK and other software packages, and association using TDT and other methods. The Core also assists users in analyses of linkage disequilibrium. The Core carries out the analyses (including error checking) and provides the user with the results of those analyses and their interpretation.