title: Sequence, splice site and population frequency distribution analyses of the polymorphic human tryptophan hydroxylase intron 7.
abstract: A human tryptophan hydroxylase intron seven polymorphism previously associated with low CSF 5-HIAA and suicidal behavior was sequenced and characterized for its potential role in TPH pre-mRNA splicing. Two polymorphic sites were identified: A218C and A779C. The 779A allelic frequency in various populations ranged from 0.43 to 0.61 and was in strong linkage disequilibrium with the A218C site. A218C provides a site for restriction fragment length polymorphism analysis. TPH mRNA was reverse-transcribed and sequenced. No aberrant splice products from the 779A or 779G TPH genes were detected nor were any other polymorphic nucleotides found.
authors.affiliation: Section of Molecular Genetics, DICBR, NIAAA, National Institutes of Health, Rockville, MD 20852, USA. nielsen@helix.nih.gov
authors.forename: D A
authors.initials: DA
authors.lastname: Nielsen
authors.forename: G L
authors.initials: GL
authors.lastname: Jenkins
authors.forename: K M
authors.initials: KM
authors.lastname: Stefanisko
authors.forename: K K
authors.initials: KK
authors.lastname: Jefferson
authors.forename: D
authors.initials: D
authors.lastname: Goldman
mesh_terms: D001483:Base Sequence; D005006:Ethnicity / Q000235:genetics*; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D007438:Introns; D015810:Linkage Disequilibrium; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012322:RNA Precursors / Q000378:metabolism; D012326:RNA Splicing; D014365:Tryptophan Hydroxylase / Q000096:biosynthesis* / Q000235:genetics*
chemical_list: D012322:RNA Precursors; D014365:Tryptophan Hydroxylase