Document Detail


Development of a screening set for new (CAG/CTG)n dynamic mutations.
MedLine Citation:
PMID:  8786123     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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
Related Documents :
8981953 - Predisposition to the fragile x syndrome in jews of tunisian descent is due to the abse...
11884683 - Independently regulated neocentromere activity of two classes of tandem repeat arrays.
19762333 - Chromosomal and genetic alterations in human hepatocellular adenomas associated with ty...
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    
Affiliation:
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
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosome Mapping
Chromosomes, Human / genetics
Cloning, Molecular
Female
Genetic Diseases, Inborn / genetics
Genotype
Humans
Male
Minisatellite Repeats
Mutation*
Polymorphism, Genetic
Sequence Tagged Sites
Trinucleotide Repeats*
Grant Support
ID/Acronym/Agency:
P50HG 00835/HG/NHGRI NIH HHS

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


Previous Document:  Construction and characterization of human chromosome 2-specific cosmid, fosmid, and PAC clone libra...
Next Document:  The gene (POLR2L) encoding the hRPB7.6 subunit of human RNA polymerase.