Document Detail


Linkage disequilibria among (CA)n polymorphisms in the human dystrophin gene and their implications in carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophies.
MedLine Citation:
PMID:  7959733     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Four short tandem repeat loci, characterized by length polymorphisms of (CA)n repeats, have been detected within introns 44, 45, 49, and 50 of the human dystrophin gene. The predicted heterozygosities for these loci range from 72 to 93%, and observed allele numbers range from 6 to 19 in 57 normal chromosomes, revealing their high degree of polymorphism. Evidence for significant disequilibria between the loci within introns 49 and 50 is found. These data appear to be consistent with observations of recombination frequencies between these markers and the length of the intron 44 in relation to the entire region. In addition, these four loci are collectively found to be 100% informative in carrier detection/prenatal diagnosis of Becker and Duchenne muscular dystrophies (B/DMD), whereas scoring the (CA)n markers within introns 45 and 49 alone gives a 99.6% success rate.
Authors:
R Chakraborty; Y Zhong; M de Andrade; P R Clemens; R G Fenwick; C T Caskey
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  21     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1994 Jun 
Date Detail:
Created Date:  1994-11-30     Completed Date:  1994-11-30     Revised Date:  2012-10-23    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  567-70     Citation Subset:  IM    
Affiliation:
Center for Demographic and Population Genetics, University of Texas Graduate School of Biomedical Sciences, Houston 77225.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Animals
DNA / blood,  genetics,  isolation & purification
Dystrophin / genetics*
Female
Heterozygote Detection*
Hominidae / genetics*
Humans
Introns
Linkage Disequilibrium*
Mathematics
Models, Genetic
Muscular Dystrophies / diagnosis,  genetics*
Polymerase Chain Reaction / methods
Polymorphism, Genetic*
Pregnancy
Prenatal Diagnosis
Repetitive Sequences, Nucleic Acid*
Grant Support
ID/Acronym/Agency:
92-IJ-CX-K024/CX/CSRD VA; 92-IJ-CX-K042/CX/CSRD VA; GM 41399/GM/NIGMS NIH HHS
Chemical
Reg. No./Substance:
0/Dystrophin; 9007-49-2/DNA

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


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