137 research outputs found
Some Clinical and Molecular Aspects of Hemoglobinopathy Detected by Our Screening Test for the Past 11 Years
Structural Analysis of Human Hemoglobin Variants by Molecular Secondary Ion Mass Spectrometry
Chemically purified abnormal peptides, α62-76 of Hb Ube-2, βT-3 of Hb G-Coushatta, αT-7 of Hb J-Norfolk and βT-1 of Hb Himeji, were subjected to molecular secondary ion mass spectrometry (SIMS). These peptides were identified by the mass number of their protonated molecular ion (M+H)+ and their amino acid sequence was confirmed by a series of the mass number of fragmented ions released by a stepwise removal from their C-terminus. Amino acid substitution of α68 Asn→Asp in Hb Ube-2, β22 Gln→ Ala in Hb G-Coushatta and α51 Gly→Asp in Hb J-Norfolk was successfully determined and a questionable Hb variant, tentatively called Hb Himeji (β140 Ala→ Asp) was proven to have a significant amount of the additive of the glycated N-terminus of the βT-1 peptide
The first instance of nonsense mutation(BChE, 400 stop) in exon 2 of the butyrylcholinesterase gene detected in Yamaguchi Prefecture
Distribution of Abnormal Hemoglobin around the Coast of the Seto Inland Sea in Comparison with Those of Surrounding Countries
A New Type of Silent Butyrylcholinesterase Genotype found in Hyogo Prefecture : a case of familial cholinesterasemia
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