Document Detail


A polymorphic (CA)n repeat element maps the human glucokinase gene (GCK) to chromosome 7p.
MedLine Citation:
PMID:  1740341     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A compound imperfect dinucleotide repeat element, [CA]4TTTGT[CT]7[CA]9AA[CA]4CCACATA[CA]3, was found approximately 10 kb 3' to the human glucokinase gene (GCK) from analysis of contiguous genomic DNA obtained from a bacteriophage lambda chromosome walk. Direct human genomic sequencing revealed the source of polymorphism to be variable numbers of CT and CA repeats. Altogether six alleles that range in length from +10 to -15 nucleotides compared to the most common (Z) allele have been identified. Alleles Z, Z + 2, and Z + 4 were present in American Blacks, Pima Indians, and Caucasians, with somewhat varied frequencies among the groups. Two alleles, Z + 10 and Z - 15, appear to be unique to American Blacks, while a Z + 6 allele was observed only in the Caucasian population studied. Observed heterozygosity of the polymorphism in the CEPH reference pedigree collection is 44% and the PIC 0.44. The polymorphism is assayed by PCR amplification and resolution of 32P-end-labeled products (ranging in length from 180 to 205 bp) on denaturing polyacrylamide sequencing gels. Using the PCR assay, the human glucokinase gene was physically localized to chromosome 7 in a panel of rodent/human somatic cell lines. Genetic analysis in CEPH pedigrees placed the dinucleotide repeat element, and thereby the human glucokinase gene, on chromosome 7p between TCRG and a RFLP locus D7S57. The glucokinase dinucleotide repeat genetic marker can now be used to assess the role of the glucokinase gene in diabetes by population association studies. In addition, this repeat marker and others flanking it on chromosome 7 can be used in linkage studies with families segregating the disorder.
Authors:
A Matsutani; R Janssen; H Donis-Keller; M A Permutt
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  12     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1992 Feb 
Date Detail:
Created Date:  1992-03-23     Completed Date:  1992-03-23     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  319-25     Citation Subset:  IM    
Affiliation:
Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri 63110.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 7*
Continental Population Groups / genetics
DNA / genetics
Gene Frequency
Genetic Markers
Glucokinase / genetics*
Heterozygote
Humans
Linkage (Genetics)
Molecular Sequence Data
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid*
Grant Support
ID/Acronym/Agency:
DK16746/DK/NIDDK NIH HHS; HG00201/HG/NHGRI NIH HHS; HG00304/HG/NHGRI NIH HHS
Chemical
Reg. No./Substance:
0/Genetic Markers; 9007-49-2/DNA; EC 2.7.1.2/Glucokinase

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