Systematic screening for mutations in the coding region of the human serotonin transporter (5-HTT) gene using PCR and DGGE

Am J Med Genet. 1996 Nov 22;67(6):541-5. doi: 10.1002/(SICI)1096-8628(19961122)67:6<541::AID-AJMG5>3.0.CO;2-K.


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.

MeSH terms

  • Adult
  • Carrier Proteins / genetics*
  • DNA Mutational Analysis
  • Electrophoresis, Polyacrylamide Gel
  • Female
  • Humans
  • Membrane Glycoproteins / genetics*
  • Membrane Transport Proteins*
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Serotonin / metabolism*
  • Serotonin Plasma Membrane Transport Proteins


  • Carrier Proteins
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins
  • Serotonin