A new hemoglobin variant found during Hb A1c measurement: Hb Hokusetsu [beta52(D3)Asp-->Gly].
A new hemoglobin variant found during Hb A1c measurement: Hb Hokusetsu [beta52(D3)Asp-->Gly].
复制标题
Hb A1c 测量过程中发现的新血红蛋白变体：Hb Hokusetsu [beta52(D3)Asp-->Gly]。
作者：
T. Nakanishi;A. Miyazaki;M. Kishikawa;A. Shimizu;O. Kishida;S. Sumi;T. Tsubakio;K. Imai
通过对1例糖尿病患者HbA 1c的检测，意外发现了一种新的β链变异体。用聚丙烯酰胺凝胶等电聚焦和电喷雾质谱检测该变异体。对于序列测定，用胰蛋白酶和赖氨酰内肽酶的组合切割珠蛋白，并通过连接电喷雾电离质谱的高效液相色谱法进行分析。通过重建的选择离子监测发现异常的β T-5肽。来自异常betaT-5肽的离子的碰撞诱导解离光谱显示了一个新的取代，[beta52（D3）Asp-->Gly]，命名为Hb Hokusetsu。使用通过反相高效液相色谱法分离的肽，用自动测序仪确认序列。β-珠蛋白外显子2的扩增和核苷酸测序揭示了密码子52中的GAT->GGT突变，对应于Asp->Gly替换。溶血产物的电喷雾电离质谱分析显示糖化球蛋白的合理值为10.4%。该变异体在等电聚焦上作为Hb S迁移。血液学分析显示正常参数。患者的溶血产物在异丙醇试验中显示正常稳定性。对患者红细胞和溶血产物的氧平衡研究显示，氧亲和力或协同性无显著变化。
A new beta chain variant was accidentally found through the assay of Hb A1c in a diabetic patient. The variant was detected by polyacrylamide gel isoelectrofocusing and electrospray ionization mass spectrometry. For sequence determination, globin was cleaved with combination of trypsin and lysyl endopeptidase and analyzed by high performance liquid chromatography connected to electrospray ionization mass spectrometry. An abnormal betaT-5 peptide was found by reconstructed selected ion monitoring. The collision-induced dissociation spectrum of an ion derived from the abnormal betaT-5 peptide revealed a new substitution, [beta52(D3)Asp-->Gly], named Hb Hokusetsu. The sequence was confirmed with an automatic sequencer using peptides isolated by reversed phase high performance liquid chromatography. Amplification of the beta-globin exon 2 and nucleotide sequencing revealed a GAT-->GGT mutation in codon 52 corresponding to an Asp-->Gly replacement. Electrospray ionization mass spectrometry analysis of the hemolysate showed a reasonable value of 10.4% for glycated globin. The variant migrated as Hb S on isoelectrofocusing. Hematological analysis revealed normal parameters. The patient's hemolysate showed normal stability in the isopropanol test. Oxygen equilibrium studies on the patient's red blood cells and hemolysate showed no significant change in oxygen affinity or cooperativity.
影响因子：
7.4
作者：
HUDDLESTON, MJ;BEAN, MF;CARR, SA
通讯作者：
CARR, SA
通过组合 HPLC/电喷雾质谱法加快罕见变异血红蛋白的表征。
影响因子：
1
作者：
Witkowska,HE;Bitsch,F;Shackleton,CH
通讯作者：
Shackleton,CH
DOI：
10.1002/bms.1200160119
发表时间：
1988-10-01
期刊：
BIOMEDICAL AND ENVIRONMENTAL MASS SPECTROMETRY
影响因子：
--
作者：
BIEMANN, K
通讯作者：
BIEMANN, K