Document Detail


Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.
MedLine Citation:
PMID:  7616551     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The CAG expansion responsible for Huntington's disease (HD) is followed by an adjacent polymorphic CCG repeat region which may interfere with a PCR based diagnosis. We have sequenced this region in 52 unrelated HD patients, from both normal and HD chromosomes. Fifty percent of the normal alleles were (CCG)7(CCT)2, 48% (CCG)10(CCT)2, and 2% (CCG)7(CCT)3. In contrast (CCG)7(CCT)2 was found in 85% of the HD alleles which represents significant linkage disequilibrium with the HD mutation.
Authors:
C Pêcheux; J F Mouret; A Dürr; Y Agid; J Feingold; A Brice; C Dodé; J C Kaplan
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  32     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1995 May 
Date Detail:
Created Date:  1995-08-23     Completed Date:  1995-08-23     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  399-400     Citation Subset:  IM    
Affiliation:
Laboratoire de Biochimie Génétique, CHU Cochin Port-Royal, Université René Descartes Paris V, France.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Base Sequence
DNA Primers / chemistry,  genetics
Humans
Huntington Disease / genetics*
Linkage Disequilibrium
Molecular Sequence Data
Mutation
Polymorphism, Genetic*
Repetitive Sequences, Nucleic Acid / genetics*
Sequence Analysis, DNA
Chemical
Reg. No./Substance:
0/DNA Primers
Comments/Corrections

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


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