导致因子VIII转录本外显子15跳跃和部分外显子16缺失的突变，以及直接突变检测方法。
Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection.
作者信息
Yenchitsomanus P, Thanootarakul P, Akkarapatumwong V, Oranwiroon S, Pung-Amritt P, Veerakul G, Mahasandana C
出版信息
Haemophilia. 2001 May;7(3):335-8. doi: 10.1046/j.1365-2516.2001.00507.x.
Abstract
A splicing defect with 201 nucleotide deletion in the factor VIII transcript due to IVS15 + 1G > T mutation inactivating this donor splice site and activating a cryptic acceptor splice site in exon 16 was identified in a severe haemophilia A patient. Allele specific amplification (ASA) method was successfully developed for direct detection of this mutation.
摘要
在一名重度甲型血友病患者中，发现了一种剪接缺陷，其VIII因子转录本中存在201个核苷酸缺失，这是由于IVS15 + 1G>T突变使该供体剪接位点失活，并激活了外显子16中的一个隐蔽性受体剪接位点。成功开发了等位基因特异性扩增（ASA）方法用于直接检测该突变。
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