Document Detail


A microsatellite polymorphism associated with the PLC1 (phospholipase C) locus: identification, mapping, and linkage to the MODY locus on chromosome 20.
MedLine Citation:
PMID:  1639386     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A highly polymorphic (dC-dA)n.(dG-dT)n dinucleotide repeat at the PLC1 locus on human chromosome 20 has been identified. Primers flanking the dinucleotide repeat were used for PCR amplification of the repeat region in 37 informative kindreds from the Centre d'Etude du Polymorphisme Humain. Two-point linkage analysis indicates that PLC1 is closely linked to several chromosome 20 markers, including D20S16 (Zmax = 41.25; theta = 0.07), D20S17 (Zmax = 42.81; theta = 0.09), and ADA (Zmax = 57.24; theta = 0.05). Multipoint linkage analysis places the PLC1 locus between D20S18 and D20S17, 11.2 and 6.6 cM, respectively, from these loci (sex-averaged distances). In addition, the PLC1 gene shows linkage to the maturity-onset diabetes of the young (MODY) locus on chromosome 20 with a lod score of 4.57 at theta = 0.089.
Authors:
C B Rothschild; G Akots; S S Fajans; D W Bowden
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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:  13     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1992 Jul 
Date Detail:
Created Date:  1992-08-28     Completed Date:  1992-08-28     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  560-4     Citation Subset:  IM    
Affiliation:
Department of Biochemistry, Bowman Gray School of Medicine, Winston-Salem, North Carolina 27157.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 20*
DNA, Satellite / genetics*
Diabetes Mellitus, Type 2 / genetics
Female
Humans
Linkage (Genetics)
Male
Molecular Sequence Data
Pedigree
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid
Type C Phospholipases / genetics*
Grant Support
ID/Acronym/Agency:
R01-DK41269/DK/NIDDK NIH HHS
Chemical
Reg. No./Substance:
0/DNA, Satellite; EC 3.1.4.-/Type C Phospholipases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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