Document Detail


Identify female carriers and de novo mutations in deletional Duchenne/Becker muscular dystrophy families.
MedLine Citation:
PMID:  16553208     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
By using multiple polymerase reaction (mPCR) and haploid analysis of 11 short tandem repeats (STRs) in dystrophin gene locus to identify female carriers in deletional DMD/BMD (Duchenne/Becker Muscular Dystrophy) families, valuable information can be gathered for prenatal diagnosis. In this article, de novo mutations were detected in two out of the four patients, and one of the four female members was identified as an obligate DMD gene carrier based on the haplotype analysis. Multiple PCR and STRs haploid linkage analysis are rapid, accurate, objective methods to identify female member status, and well suited for routine use in clinical laboratories engaged in DMD/BMD research for counseling, gene diagnosis and prenatal diagnosis. During mPCR analysis, the amplicon of exon 45 showed different electrophoresis mobility in different kinds of gels. Polyacrylamide Gels Electrophoresis (PAGE) was accurate and rapid for analyzing the products of mPCR, but the mobility of different amplicons need to be considered in data analysis.
Authors:
Hai-Yan Zhu; Ling-Qian Wu; De-Sheng Liang; Qian Pan; Jia-Hui Xia
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Yi chuan xue bao = Acta genetica Sinica     Volume:  33     ISSN:  0379-4172     ISO Abbreviation:  Yi Chuan Xue Bao     Publication Date:  2006 Mar 
Date Detail:
Created Date:  2006-03-23     Completed Date:  2009-03-31     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7900784     Medline TA:  Yi Chuan Xue Bao     Country:  China    
Other Details:
Languages:  eng     Pagination:  206-12     Citation Subset:  IM    
Affiliation:
National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, Changsha 410078, China.
Data Bank Information
Bank Name/Acc. No.:
OMIM/300376;  310200
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
DNA Mutational Analysis
Family Health
Female
Genes, sry / genetics
Genotype
Haplotypes
Heterozygote
Humans
Male
Microsatellite Repeats / genetics*
Muscular Dystrophy, Duchenne / diagnosis,  genetics*
Mutation*
Pedigree
Phenotype
Polymerase Chain Reaction / methods
Pregnancy
Prenatal Diagnosis / methods
Sequence Deletion
Young Adult

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


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