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利用质谱法鉴定一种罕见的血红蛋白变体HbJ-Rajappen [α90 (FG2) 赖氨酸→苏氨酸]

Identification of a Rare Hemoglobin Variant HbJ-Rajappen [alpha90 (FG2) Lys → Thr] Using Mass Spectrometry.

作者信息

Bhat Vijay S, Mandal Amit Kumar, Mathew Bobby

机构信息

Department of Biochemistry, Manipal Hospital Diagnostic Services, Manipal Hospital, HAL Airport Road, Bangalore, 560017 India.

出版信息

Indian J Clin Biochem. 2012 Oct;27(4):414-6. doi: 10.1007/s12291-012-0200-4. Epub 2012 Mar 24.

Abstract

Hemoglobin J-Rajappen (alpha)90 Lys → Thr is an alpha chain variant found in heterozygous state and presents normal hematological blood picture. Due to the ambiguity in results obtained while analyzing by HPLC and alkaline gel electrophoresis, we report this rare case of HbJ-Rajappen using non denaturing gel electrophoresis and matrix assisted laser desorption ionization mass spectrometry. Though HbJ-Rajappen has earlier been reported using different techniques, this is the first report being validated using mass spectrometry technique.

摘要

血红蛋白J-拉贾彭(α)90位赖氨酸→苏氨酸是一种在杂合状态下发现的α链变体,呈现正常的血液学血象。由于通过高效液相色谱法(HPLC)和碱性凝胶电泳分析时获得的结果存在不确定性,我们使用非变性凝胶电泳和基质辅助激光解吸电离质谱法报告了这例罕见的HbJ-拉贾彭病例。尽管之前已使用不同技术报道过HbJ-拉贾彭,但这是首次使用质谱技术进行验证的报告。

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