A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q

Détails

ID Serval
serval:BIB_2A58E13A9E9B
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q
Périodique
Nature Genetics
Auteur(s)
Vaxillaire  M., Boccio  V., Philippi  A., Vigouroux  C., Terwilliger  J., Passa  P., Beckmann  J. S., Velho  G., Lathrop  G. M., Froguel  P.
ISSN
1061-4036 (Print)
Statut éditorial
Publié
Date de publication
04/1995
Volume
9
Numéro
4
Pages
418-23
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Apr
Résumé
Maturity-onset diabetes of the young (MODY) is a subtype of non-insulin dependent diabetes mellitus, with early age of onset. MODY is genetically heterogeneous, associated with glucokinase mutations and a locus on chromosome 20q; in about 50% of cases, its genetic background is unknown. We have studied 12 families in which MODY is unlinked to either glucokinase or chromosome 20q markers, and find significant evidence for linkage with microsatellite markers on chromosome 12q, most likely within a 7 centimogran interval bracketed by D12S86 and D12S342. The disease was estimated to be linked to this chromosome region in approximately 50% of families in a heterogeneity analysis. These MODY patients exhibit major hyperglycaemia with a severe insulin secretory defect, suggesting that the causal gene is implicated in pancreatic beta-cell function.
Mots-clé
Adolescent Adult Child *Chromosome Mapping *Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 20 DNA, Satellite/genetics Diabetes Mellitus, Type 2/*genetics Female Genes, Dominant Genetic Markers Glucokinase/genetics Humans Linkage (Genetics) Lod Score Male Pedigree
Pubmed
Web of science
Création de la notice
25/01/2008 17:18
Dernière modification de la notice
03/03/2018 15:23
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