Document Detail


Heteroduplex analysis can increase the informativeness of PCR-amplified VNTR markers: application using a marker tightly linked to the COL2A1 gene.
MedLine Citation:
PMID:  8449503     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Variable number of tandem repeat (VNTR) polymorphisms provide a high degree of informativeness in linkage studies. Whether performed by standard methods or by polymerase chain reaction (PCR), analysis of these markers involves assessment of the length of each allele. VNTR alleles usually differ in the number of tandem repeats. During PCR amplification of a VNTR closely linked to the type II collagen gene (COL2A1), we identified allelic microheterogeneity through the analysis of unique heteroduplexes between amplified strands of the two alleles. In one large pedigree, heteroduplex analysis identified six COL2A1 alleles; standard methods would have identified only three distinct alleles. The identification of these heteroduplexes allowed the determination of the COL2A1 inheritance pattern in the family, which otherwise would have been noninformative.
Authors:
D J Wilkin; K E Koprivnikar; D H Cohn
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  15     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1993 Feb 
Date Detail:
Created Date:  1993-04-14     Completed Date:  1993-04-14     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  372-5     Citation Subset:  IM    
Affiliation:
Steven Spielberg Pediatric Research Center, Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California 90048.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Base Sequence
Cells, Cultured
Collagen / genetics*
DNA, Single-Stranded
Female
Genetic Markers*
Homozygote
Humans
Male
Molecular Sequence Data
Nucleic Acid Heteroduplexes*
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid*
Grant Support
ID/Acronym/Agency:
HD22657/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/DNA, Single-Stranded; 0/Genetic Markers; 0/Nucleic Acid Heteroduplexes; 9007-34-5/Collagen

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


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