title: Human hexokinase II: localization of the polymorphic gene to chromosome 2.
abstract: Type 2 (non-insulin-dependent) diabetes mellitus is characterized by decreased levels of glucose 6-phosphate in skeletal muscle. It has been suggested that the lower concentrations of glucose 6-phosphate contribute to the defect in glucose metabolism noted in muscle tissue of subjects with Type 2 diabetes or subjects at increased risk of developing Type 2 diabetes. Lower levels of glucose 6-phosphate could be due to a defect in glucose uptake, or phosphorylation, or both. Hexokinase II is the isozyme of hexokinase that is expressed in skeletal muscle and is responsible for catalysing the phosphorylation of glucose in this tissue. The recent demonstration that mutations in another member of this family of glucose phosphorylating enzymes, glucokinase, can lead to the development of Type 2 diabetes prompted us to begin to examine the possible role of hexokinase II in the development of this genetically heterogeneous disorder. As a first step, we have cloned the human hexokinase II gene (HK2) and mapped it to human chromosome 2, band p13.1, by fluorescence in situ hybridization to metaphase chromosomes. In addition, we have identified and characterized a simple tandem repeat DNA polymorphism in HK2 and used this DNA polymorphism to localize this gene within the genetic linkage map of chromosome 2.
authors.affiliation: Howard Hughes Medical Institute, Department of Biochemistry and Molecular Biology, University of Chicago, Illinois.
authors.forename: M
authors.initials: M
authors.lastname: Lehto
authors.forename: K
authors.initials: K
authors.lastname: Xiang
authors.forename: M
authors.initials: M
authors.lastname: Stoffel
authors.forename: R
authors.initials: R
authors.lastname: Espinosa
authors.forename: L C
authors.initials: LC
authors.lastname: Groop
authors.forename: M M
authors.initials: MM
authors.lastname: Le Beau
authors.forename: G I
authors.initials: GI
authors.lastname: Bell
mesh_terms: D000483:Alleles; D000818:Animals; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China / Q000208:ethnology; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D017931:DNA Primers; D005260:Female; D005787:Gene Frequency; D015698:Genomic Library; D006593:Hexokinase / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007527:Isoenzymes / Q000235:genetics*; D008214:Lymphocytes / Q000166:cytology / Q000201:enzymology; D008297:Male; D008969:Molecular Sequence Data; D010920:Placenta / Q000201:enzymology; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011247:Pregnancy; D051381:Rats; D012091:Repetitive Sequences, Nucleic Acid; D044465:White People / Q000235:genetics
chemical_list: D017931:DNA Primers; D007527:Isoenzymes; D006593:Hexokinase