title: The human dopamine transporter gene: the 5'-flanking region reveals five diallelic polymorphic sites in a Caucasian population sample.
abstract: The 5'-flanking region of the human dopamine transporter (hDAT) was systematically screened for variants by single strand conformation analysis (SSCA) between -1586 and +97 basepair (bp) relative to the transcription start site. Five diallelic polymorphisms were found, which were shown to be due to single base substitutions: T-67A, G-660C, C-839T, C-1169G, T-1476G. In a population sample of 119 unrelated Caucasians, allele frequencies of the rarer allele were 47% for -67T, 3% for -660C, 45% for -839T, 50% for -1169G, and 8% for -1476G, respectively. Among 15 observed haplotypes, seven haplotypes collected a frequency of about 96% in our sample. T-67A, C-839T, C-1169G, T-1476G were related to potential transcriptional recognition sites. These findings and the occurrence of distinct haplotypes at the hDAT promoter locus in a Caucasian population sample make this region a promising target in the context of linkage and association studies in certain diseases.
authors: Department of Psychiatry, University of Würzburg, Füchsleinstrasse 15, 97080, Würzburg, Germany.
authors: C
authors: C
authors: Rubie
authors: F
authors: F
authors: Schmidt
authors: M
authors: M
authors: Knapp
authors: J
authors: J
authors: Sprandel
authors: C
authors: C
authors: Wiegand
authors: J
authors: J
authors: Meyer
authors: G
authors: G
authors: Jungkunz
authors: P
authors: P
authors: Riederer
authors: G
authors: G
authors: Stöber
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D017931:DNA Primers; D050483:Dopamine Plasma Membrane Transport Proteins; D005787:Gene Frequency; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics; D044465:White People / Q000235:genetics
chemical_list: D020121:5' Untranslated Regions; D002352:Carrier Proteins; D017931:DNA Primers; D050483:Dopamine Plasma Membrane Transport Proteins; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins