Document Detail

Development of a screening set for new (CAG/CTG)n dynamic mutations.
MedLine Citation:
PMID:  8786123     Owner:  NLM     Status:  MEDLINE    
The expansion of a (CAG/CTG)n triplet repeat has been found to be associated with at least seven genetic diseases, suggesting that this mechanism of disease may be fairly common. To accelerate the discovery of new loci containing (CAG/CTG)n triplet expansions, we have isolated numerous genomic clones containing this class of repeats. We have developed 338 sequence-tagged sites (STSs) containing (CAG/CTG)n repeat sequences. Two hundred ninety-nine STSs were unambiguously assigned to chromosomes, and 89 of the total were assigned to YACs. The 141 STSs that were developed based on (CAG/CTG)n repeats of at least seven units were genotyped on four reference CEPH individuals to estimate their polymorphic quality.
J M Gastier; T Brody; J C Pulido; T Businga; S Sunden; X Hu; S Maitra; K H Buetow; J C Murray; V C Sheffield; M Boguski; G M Duyk; T J Hudson
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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:  32     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1996 Feb 
Date Detail:
Created Date:  1996-09-20     Completed Date:  1996-09-20     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  75-85     Citation Subset:  IM    
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/U63963;  X15357;  X52560;  X54134;  X82209;  Z15459;  Z26491
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MeSH Terms
Base Sequence
Chromosome Mapping
Chromosomes, Human / genetics
Cloning, Molecular
Genetic Diseases, Inborn / genetics
Minisatellite Repeats
Polymorphism, Genetic
Sequence Tagged Sites
Trinucleotide Repeats*
Grant Support

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