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  • Title: Sequence, splice site and population frequency distribution analyses of the polymorphic human tryptophan hydroxylase intron 7.
    Author: Nielsen DA, Jenkins GL, Stefanisko KM, Jefferson KK, Goldman D.
    Journal: Brain Res Mol Brain Res; 1997 Apr; 45(1):145-8. PubMed ID: 9105682.
    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.
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