Cécile Julier

Comparative mapping of novel simple sequence repeat markers in a hypertension-related region on rat chromosome 1.

~Department of Laboratory Medicine, Shimane Medical University, Izumo, 693, Japan 2Otsuka Department of International Preventive Nutritional Medicine, Kyoto University, Kyoto, 606, Japan 3Graduate School of Human and Environmental Studies, Kyoto University, Kyoto, 606, Japan 4Institute of Laboratory Animals, Faculty of Medicine, Kyoto University, Kyoto, 606-01, Japan 5INSERM U. 358, Hopital St. Louis, 1, Av. Claude Vellefaux, Paris, 75475, France 6Wellcome Trust Centre for Human Genetics, University of Oxford, Windmill Road, Oxford, OX3 7BN, UK 7Department of Internal Medicine, Keio University, Shinanomachi, Shinjuku-ku, Tokyo, Japan 8Laboratory Animal Science and Toxicology Laboratories, Sankyo Co., Ltd., Fukuroi, Shizuoka, Japan

Genetics of insulin-dependent diabetes mellitus.

Recent studies that have focused on the detection of non-MHC susceptibility loci in insulin-dependent diabetes mellitus are reviewed. It has been confirmed that the region on human chromosome 11p contains such a susceptibility locus and recent research has attempted to identify the causative DNA variants and their functional role in disease.

Screening for the GRA mutation in Jamaica.

Glucocorticoid-remediable aldosteronism (GRA) is a form of hypertension which is transmitted as an autosomal dominant. The syndrome is characterised by hyperaldosteronism, hypokalaemia and low plasma renin activity. These abnormalities can be corrected with low-dose glucocorticoid therapy. Non-reciprocal recombination between the 11b-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes creates a chimaeric gene which has 5′ regulatory elements of CYP11B1 spliced to CYP11B2 sequences. GRA is caused by the high-level expression of this mutant form of CYP11B2 under the influence of adrenocorticotrophin instead of angiotensin II. GRA is thought to be uncommon in Caucasians. However, patients with GRA have variable clinical features (for instance, hypokalaemia may be less common than previously thought) so the true prevalence of the disease is unknown. Furthermore, the prevalence of GRA may vary

Génétique du diabète insulino-dépendant

Le diabete insulinodependant (DID) est la maladie multifactorielle pour laquelle les etudes genetiques sont le plus avancees. Si une contribution du complexe majeur dhistocompatibilite est reconnue depuis longtemps, plusieurs etudes recentes se sont attachees a rechercher les autres genes de susceptibilite qui interviennent dans le determinisme de cette maladie. Un role de la region du gene de linsuline dans la susceptibilite au DID a ete confirme, et la combinaison detudes genetiques et fonctionnelles a permis didentifier lun des variants de cette region comme le plus probablement responsable de cet effet.