Lacombe C, Promé D, Blouquit Y, Bardakdjian J, Arous N, Mrad A, Promé J C, Rosa J
I.N.S.E.R.M. U.91, C.N.R.S. UA 607, C.H.U. Henri Mondor, Créteil, France.
Hemoglobin. 1990;14(5):529-48. doi: 10.3109/03630269009005806.
Fast atom bombardment mass spectrometry has already been used for the identification of mutations in abnormal human hemoglobin chains. This paper presents new results obtained with this technique. The methodology used here is compared with more conventional biochemical techniques and automated microsequencing. In every case, a well-chosen combination of peptide-high performance liquid chromatography, mass spectrometry, amino acid analysis, and sequence analysis led rapidly to the identification of the mutant. The high sensitivity of these techniques holds great promise for the analysis of molecular abnormalities in various genetic disorders presently detectable only by the application of a molecular biological approach.
快原子轰击质谱法已用于鉴定异常人类血红蛋白链中的突变。本文介绍了用该技术获得的新结果。将此处使用的方法与更传统的生化技术和自动微测序进行了比较。在每种情况下,精心选择的肽高效液相色谱、质谱、氨基酸分析和序列分析的组合都能迅速鉴定出突变体。这些技术的高灵敏度为分析目前仅通过分子生物学方法才能检测到的各种遗传疾病中的分子异常带来了巨大希望。