Document Detail


Rapid DNA haplotyping using a multiplex heteroduplex approach: application to Duchenne muscular dystrophy carrier testing.
MedLine Citation:
PMID:  7599638     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A new strategy has been developed for rapid haplotype analysis based on an initial multiplex amplification of several polymorphic sites, followed by heteroduplex detection. Heteroduplexes formed between two different alleles are detected because they migrate differently than the corresponding homoduplexes in Hydrolink-MDE gel. This simple, rapid method does not depend on specific sequences such as restriction enzyme sites or CA boxes and does not require the use of isotope. This approach has been tested using commonly occurring polymorphisms spanning the dystrophin gene as a model. We describe the use of the method to assign the carrier status of females in Duchenne muscular dystrophy (DMD) pedigrees. The method may be used for other genetic diseases when mutations are unknown or there are few dinucleotide markers in the gene proximity, and for the identification of haplotype backgrounds of mutant alleles.
Authors:
T W Prior; G D Wenger; A C Papp; P J Snyder; M S Sedra; C Bartolo; J W Moore; W E Highsmith
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human mutation     Volume:  5     ISSN:  1059-7794     ISO Abbreviation:  Hum. Mutat.     Publication Date:  1995  
Date Detail:
Created Date:  1995-08-10     Completed Date:  1995-08-10     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  263-8     Citation Subset:  IM    
Affiliation:
Department of Pathology, Ohio State University, Columbus 43210, USA.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
DNA / analysis*
Dystrophin / genetics*
Electrophoresis, Polyacrylamide Gel
Exons
Female
Haplotypes
Heterozygote Detection / methods*
Humans
Molecular Sequence Data
Muscular Dystrophies / genetics*
Nucleic Acid Heteroduplexes / genetics*
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Chemical
Reg. No./Substance:
0/Dystrophin; 0/Nucleic Acid Heteroduplexes; 9007-49-2/DNA

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


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