Direct haplotype detection of adjacent polymorphic sites in the regulatory region of the dopamine D4 receptor (DRD4) gene

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7 Citations (Scopus)

Abstract

A novel method of haplotype identification is discussed allowing simultaneous detection of two adjacent polymorphic sites, a single nucleotide polymorphism (SNP) and a length polymorphism within 1-2 kilobase distance. The method combines allele specific-amplification with high-throughput, automated ultrathin-layer gel electrophoresis analysis of fragment size polymorphism. A typical application is shown for genotyping the -521 C/T single nucleotide polymorphism and the 120 bp duplication in the 5″-upstream region of the dopamine D4 receptor (DRD4) gene. We have also demonstrated that the haplotypes of double heterozygotes for -521 C/T and for the 120 bp duplication can be clearly distinguished, that has only been possible previously by extensive pedigree analysis.

Original languageEnglish
Pages (from-to)1512-1516
Number of pages5
JournalELECTROPHORESIS
Volume23
Issue number10
DOIs
Publication statusPublished - Jun 27 2002

Keywords

  • Dopamine D4 receptor gene
  • Genotyping
  • Haplotype
  • Promoter
  • Single-nucleotide polymorphism

ASJC Scopus subject areas

  • Analytical Chemistry
  • Biochemistry
  • Clinical Biochemistry

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