A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes

Human Genetics
T M FraylingS Ellard

Abstract

Non-insulin dependent diabetes (NIDDM) is a polygenic heterogeneous disorder of glucose homeostasis. Maturity-onset diabetes of the young (MODY) is a monogenic subtype of NIDDM characterised by early-onset (< 25 years) and autosomal dominant inheritance. Mutations in the hepatocyte nuclear factor 1 alpha (HNF-1 alpha) gene have recently been shown to cause MODY. The incidence of mutations in this gene in MODY and late-onset NIDDM is not known. We have developed a rapid specific polymerase chain reaction test for HNF-1 alpha mutations; this test involves the use of fluorescently labelled forward primers and modified reverse primers to detect length polymorphisms resulting from frameshift mutations. With this method, we have screened 102 MODY probands, viz. 60 defined according to strict diagnostic criteria (autosomal dominant inheritance and at least one member diagnosed age < 25 years) and 95 late-onset NIDDM probands (diagnosed 35-70 years with > or = 1 affected relative), for the presence of 9 known HNF-1 alpha frameshift mutations, including 6 that occur at two sites for recurring mutation (residues 291/292 and 379). Mutations were detected in 11 of the strictly defined MODY probands and one mutation was also found in a sing...Continue Reading

Citations

Oct 6, 2005·Biosensors & Bioelectronics·Hyun Gyu ParkNam Huh
Jan 11, 2014·BMC Cardiovascular Disorders·Casper H JørgensenPeter R Hansen
Sep 14, 2001·Best Practice & Research. Clinical Endocrinology & Metabolism·K Owen, A T Hattersley
Jul 2, 2003·Diabetes Care·Katharine R OwenAndrew T Hattersley
Jan 15, 2000·Arteriosclerosis, Thrombosis, and Vascular Biology·R A HegeleP W Connelly
Jun 3, 2008·Diabetic Medicine : a Journal of the British Diabetic Association·S A EideA Molven
Jan 3, 2009·The Korean Journal of Internal Medicine·Dong Mee LimKeun Yong Park
Mar 20, 1999·The Journal of Clinical Endocrinology and Metabolism·R A HegeleB Zinman
Jan 22, 2005·Annals of the New York Academy of Sciences·Finn Edler von EybenUNKNOWN Abdominal Obesity Study Group

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