与家族性淀粉样多神经病相关的血浆前白蛋白（转甲状腺素蛋白）变体的质谱检测。
Mass spectrometric detection of the plasma prealbumin (transthyretin) variant associated with familial amyloidotic polyneuropathy.
作者信息
Wada Y, Matsuo T, Katakuse I, Suzuki T, Azuma T, Tsujino S, Kishimoto S, Matsuda H, Hayashi A
出版信息
Biochim Biophys Acta. 1986 Sep 26;873(2):316-9. doi: 10.1016/0167-4838(86)90061-0.
PMID:3756182
Abstract
A plasma prealbumin variant with a methionine-for-valine substitution at position 30 is closely associated with familial amyloidotic polyneuropathy (FAP) type I. Secondary ion mass spectrometry of the tryptic digest of a carrier's prealbumin could easily detect an abnormal peptide containing the substitution besides the normal peptide. This is a sensitive and reliable method for the diagnosis of FAP.
摘要
一种在第30位缬氨酸被甲硫氨酸替代的血浆前白蛋白变体与I型家族性淀粉样多神经病（FAP）密切相关。对携带者前白蛋白的胰蛋白酶消化产物进行二次离子质谱分析，除了正常肽段外，很容易检测到含有该替代的异常肽段。这是一种诊断FAP的灵敏且可靠的方法。
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