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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.

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  • 1Section 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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