Article
Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.
Diabetes - 1 May 1994
Hager J, Blanché H, Sun F, Vaxillaire N V, Poller W, Cohen D, Czernichow P, Velho G, Robert J J, Cohen N
Abstract excerpt
We have reported that 56% of French families with maturity-onset diabetes of the young (MODY) carry a mutation in the glucokinase gene (GCK). Therefore, we have established a quick and sensitive nonradioactive technique (with the PhastSystem based on single-strand conformation polymorphism [SSCP] analysis) to routinely screen the 12 exons of GCK for mutations. We have studied GCK in 12 young hyperglycemic...
Topics
- Adult
- Age Factors
- Amino Acid Sequence
- Base Sequence
- Codon
- Diabetes Mellitus, Type 2
- Exons
- Female
- Genetic Carrier Screening
- Genetic Variation
- Glucokinase