Brain Res Mol Brain Res. 1997 Apr;45(1):145-8.

Sequence, splice site and population frequency distribution analyses of the polymorphic human tryptophan hydroxylase intron 7.

Nielsen DA, Jenkins GL, Stefanisko KM, Jefferson KK, Goldman D.

Source

Section of Molecular Genetics, DICBR, NIAAA, National Institutes of Health, Rockville, MD 20852, USA. nielsen@helix.nih.gov

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.

PMID:: 9105682; [PubMed - indexed for MEDLINE]

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