Systematic Screening for Mutations in the Coding Region of the Human Serotonin Transporter (5-HTT) Gene Using PCR and DGGE

Daniela Di Bella, Marco Catalano, Ursula Balling, Enrico Smeraldi, Klaus Peter Lesch

Research output: Contribution to journalArticle


Dysfunctions in serotonergic pathways may underlie several psychiatric disorders. The reuptake of serotonin (5-HT) from synaptic terminals is mediated by a specific transporter (5-HTT). Genetic variation in the gene coding for the 5-HTT protein might be involved in the predisposition to psychiatric disorders. A systematic screening of the whole coding sequence of the 5-HTT gene in mood disorder (MD) and obsessive-compulsive disorder (OCD) patients, as well as in healthy controls, using PCR and denaturing gradient gel electrophoresis (DGGE) revealed the presence of two mutations. The first was in intron 4, and the second was a C → A transversion leading to an amino-acid exchange (Leu → Met) in position 255 of the deduced protein sequence. No further occurrence of this substitution was found in an extended sample of patients and controls. Therefore, structural modifications of the 5-HTT gene do not seem to play either a major or minor role in the genetic predisposition to MD or OCD.

Original languageEnglish
Pages (from-to)541-545
Number of pages5
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Issue number6
Publication statusPublished - 1996



  • 5-HTT gene
  • Denaturing gradient gel electrophoresis (DGGE)
  • Molecular screening
  • PCRV

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

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