Document Detail


Genotyping and haplotyping of the dopamine D4 receptor gene by capillary electrophoresis.
MedLine Citation:
PMID:  15543989     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In this paper we report on simultaneous genotyping of adjacent polymorphisms (referred to as haplotyping) by combining double-tube allele-specific polymerase chain reaction, restriction fragment length polymorphism and capillary gel electrophoresis analysis of the resulting fragments. Direct molecular haplotyping is of particular importance in the case of double heterozygote samples, since in these instances the haplotype structure cannot be constructed based on genotype data. Our approach provided a powerful tool for coincidental genotype analysis of the 48 base pair (bp) variable number of tandem repeats of the third exon and haplotype investigation of the -616CG and -521CT single nucleotide polymorphisms of the dopamine D4 receptor (DRD4) gene. The linear polyacrylamide sieving matrix was optimized for the size range of the double-stranded DNA fragments of interest varying from 35 to 763 bp. We demonstrated that capillary gel electrophoresis in combination with laser induced fluorescence detection offers a sensitive and accurate tool for automated haplotyping in clinical settings.
Authors:
Eszter Szantai; Agnes Szilagyi; Andras d Guttman; Maria a Sasvari-Szekely; Zsolt Ronai
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of chromatography. A     Volume:  1053     ISSN:  0021-9673     ISO Abbreviation:  J Chromatogr A     Publication Date:  2004 Oct 
Date Detail:
Created Date:  2004-11-16     Completed Date:  2005-03-07     Revised Date:  2009-01-15    
Medline Journal Info:
Nlm Unique ID:  9318488     Medline TA:  J Chromatogr A     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  241-5     Citation Subset:  IM    
Affiliation:
Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest H-1444 POB 260, Hungary.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
DNA Primers
Electrophoresis, Capillary / methods*
Female
Genotype
Haplotypes
Humans
Male
Receptors, Dopamine D2 / genetics*
Receptors, Dopamine D4
Chemical
Reg. No./Substance:
0/DNA Primers; 0/DRD4 protein, human; 0/Receptors, Dopamine D2; 137750-34-6/Receptors, Dopamine D4

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


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