Document Detail


Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain.
MedLine Citation:
PMID:  8525433     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Expansion mutation is the cause of eight neuropsychiatric disorders. Thus far each disease is the result of expansion of a C-G rich trinucleotide repeat that is polymorphic for length in the general population. We now report the identification of seven novel cDNA clones with CCA or equivalent trinucleotide repeats obtained by screening a human frontal cortex cDNA library. The repeat lengths of two clones, CCA11 (linked to D20S101, expressed in human brain as a 3.2 kb message) and CCA38 (linked to D5S404), are highly polymorphic in a normal human population. CCA54, mapped to chromosome 19, appears to correspond to a portion of the human gene encoding the alpha 1 subunit of a P-type calcium channel. Expansion mutations at these loci should be considered as possible candidates in evaluating the genetic etiologies of diseases linked to chromosomes 5, 19, and 20.
Authors:
R L Margolis; T S Breschel; S H Li; A S Kidwai; S E Antonarakis; M G McInnis; C A Ross
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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:  Somatic cell and molecular genetics     Volume:  21     ISSN:  0740-7750     ISO Abbreviation:  Somat. Cell Mol. Genet.     Publication Date:  1995 Jul 
Date Detail:
Created Date:  1996-01-22     Completed Date:  1996-01-22     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8403568     Medline TA:  Somat Cell Mol Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  279-84     Citation Subset:  IM    
Affiliation:
Laboratory of Molecular Neurobiology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2196, USA.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/U06699;  U06700;  U06701;  U06702;  U23840;  U23841;  U23842;  U23843;  U23844;  U23845;  U23846;  U23847;  U23848;  U23849
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Brain / metabolism*
Calcium Channels / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 19*
Cloning, Molecular
DNA Primers
DNA, Complementary / chemistry,  metabolism
Frontal Lobe / metabolism*
Gene Frequency
Humans
Linkage (Genetics)
Macromolecular Substances
Molecular Sequence Data
Nervous System Diseases / genetics
Polymerase Chain Reaction
Polymorphism, Genetic*
Psychotic Disorders / genetics
Repetitive Sequences, Nucleic Acid*
Grant Support
ID/Acronym/Agency:
HG00468/HG/NHGRI NIH HHS; MH 50763/MH/NIMH NIH HHS
Chemical
Reg. No./Substance:
0/Calcium Channels; 0/DNA Primers; 0/DNA, Complementary; 0/Macromolecular Substances

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