title: Human hepatocyte nuclear factor-1 beta (HNF1B) 1968A/G polymorphism.
abstract: We found a novel A-->G change at nucleotide 1968 within the 3'-untranslated region of the HNF1B gene encoding the hepatocyte nuclear factor-1 beta. The HNF1B 1968A/G polymorphism could be detected by digestion with endonuclease MspI. The frequency of the HNF1B 1968G allele was 0.060 in Caucasians and 0.129 in Canadian Oji-Cree. Because of the importance of the HNF1B gene product in the regulation of transcription of several hepatic proteins, this polymorphism may be useful in the study of associations with metabolic phenotypes such as diabetes.
authors.affiliation: Blackburn Cardiovascular Genetics Laboratory, John P. Robarts Research Institute, London, Ontario, Canada.
authors.forename: H
authors.initials: H
authors.lastname: Cao
authors.forename: R A
authors.initials: RA
authors.lastname: Hegele
mesh_terms: D020413:3' Untranslated Regions; D000483:Alleles; D044466:Asian People / Q000235:genetics; D002170:Canada; D002886:Chromosomes, Human, Pair 17; D004268:DNA-Binding Proteins; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D005260:Female; D051537:Hepatocyte Nuclear Factor 1; D051538:Hepatocyte Nuclear Factor 1-alpha; D051539:Hepatocyte Nuclear Factor 1-beta; D006801:Humans; D007198:Indians, North American / Q000235:genetics; D008297:Male; D009687:Nuclear Proteins; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D020413:3' Untranslated Regions; D004268:DNA-Binding Proteins; C496487:HNF1A protein, human; C496495:HNF1B protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D009687:Nuclear Proteins; D014157:Transcription Factors; D051537:Hepatocyte Nuclear Factor 1; D051539:Hepatocyte Nuclear Factor 1-beta