人色氨酸羟化酶内含子7多态性的序列、剪接位点及群体频率分布分析
Sequence, splice site and population frequency distribution analyses of the polymorphic human tryptophan hydroxylase intron 7.
作者信息
Nielsen D A, Jenkins G L, Stefanisko K M, Jefferson K K, Goldman D
机构信息
Section of Molecular Genetics, DICBR, NIAAA, National Institutes of Health, Rockville, MD 20852, USA.
出版信息
Brain Res Mol Brain Res. 1997 Apr;45(1):145-8. doi: 10.1016/s0169-328x(96)00304-x.
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.
对先前与脑脊液5-羟吲哚乙酸水平低及自杀行为相关的人类色氨酸羟化酶内含子7多态性进行了测序，并对其在色氨酸羟化酶前体信使核糖核酸剪接中的潜在作用进行了表征。鉴定出两个多态性位点：A218C和A779C。不同人群中779A等位基因频率在0.43至0.61之间，且与A218C位点处于强连锁不平衡状态。A218C为限制性片段长度多态性分析提供了一个位点。对色氨酸羟化酶信使核糖核酸进行逆转录和测序。未检测到来自779A或779G色氨酸羟化酶基因的异常剪接产物，也未发现任何其他多态性核苷酸。
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