Document Detail


Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q.
MedLine Citation:
PMID:  1639379     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The mutation involved in myotonic dystrophy (DM) has been mapped to the region between the ERCC1 DNA repair gene and the anonymous D19S51 locus on 19q13.3. Starting at locus D19S112 (probe pX75b), which served as a novel entry site for this chromosome region, we have established a cosmid contig of approximately 200 kb. In the contig, a gene expressed in the brain and a highly informative, 12-allele (TG)n variable simple sequence motif (VSSM) were identified. With this marker, designated X75b-VSSM, a highly characteristic size distribution of alleles linked with DM, which differed significantly from that on normal chromosomes, was observed. Combining our physical mapping and genetic data, we show that the X75b-VSSM marker is the closest distal to DM, thus excluding the DM mutation from the entire telomeric portion of the ERCC1-D19S51 region.
Authors:
G Jansen; P J de Jong; C Amemiya; C Aslanidis; D J Shaw; H G Harley; J D Brook; R Fenwick; R G Korneluk; C Tsilfidis
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-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:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  509-17     Citation Subset:  IM    
Affiliation:
Department of Cell Biology, University Nijmegen, The Netherlands.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/M74212;  M74213;  M74214;  M74215;  M82902;  M82903;  M82904;  M82905;  M82906;  S41693
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 19*
Cloning, Molecular
Cosmids
DNA / genetics
DNA Probes
Female
Genetic Markers
Humans
Linkage (Genetics)
Male
Molecular Sequence Data
Mutation
Myotonic Dystrophy / genetics*
Pedigree
Repetitive Sequences, Nucleic Acid
Chemical
Reg. No./Substance:
0/DNA Probes; 0/Genetic Markers; 9007-49-2/DNA

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


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