因子IX波特兰型：一种导致乙型血友病的无义突变（从CGA突变为TGA）。
Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B.
作者信息
Chen S H, Scott C R, Schoof J, Lovrien E W, Kurachi K
机构信息
Department of Pediatrics, University of Washington, Seattle 98195.
出版信息
Am J Hum Genet. 1989 Apr;44(4):567-9.
Abstract
Male siblings with severe hemophilia b were studied for the molecular defect responsible for their disorder. To define the precise DNA alteration, a 362-bp fragment in the first part of exon VIII of the factor IX gene was amplified and sequenced. A single-base-pair substitution of C----T at the nucleotide sequence 30875 was found which resulted in a nonsense mutation (TGA) and terminated the protein synthesis of factor IX at amino acid residue 252. The single-base change occurred as a classic CG dinucleotide alteration to TG (or CA), a common mechanism for point mutations in mammals.
摘要
对患有严重B型血友病的男性同胞进行研究，以确定导致其病症的分子缺陷。为了确定精确的DNA改变，对凝血因子IX基因第八外显子第一部分的一个362bp片段进行了扩增和测序。发现在核苷酸序列30875处发生了C→T的单碱基对替换，这导致了一个无义突变（TGA），并使凝血因子IX的蛋白质合成在氨基酸残基252处终止。这种单碱基变化是作为一种典型的CG二核苷酸转变为TG（或CA）而发生的，这是哺乳动物中常见的点突变机制。
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Am J Hum Genet. 1989 Apr;44(4):567-9.
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