高效液相层析和气相蛋白质顺序法分析Hb　Hamilton  

HB HAMILTON[α_2β_211(A8)VAL→ILE]AS A SILENT β-CHAIN DETECTED BY HIGH PERFORMANCE LIQUID CHROMATOGRAPHY AND GAS PHASE PROTEIN SEQUENCER

作　　者：苏承武[1] 梁荣[1] 梁徐[1] 唐智宁[1] 柴常星[1] 孙雪英[1] 刘祖洞[1] 

机构地区：[1]广西医科大学,复旦大学遗传学研究所

出　　处：《中华医学遗传学杂志》1994年第1期5-8,共4页Chinese Journal of Medical Genetics

基　　金：复旦大学遗传工程国家重点实验室基金

摘　　要：报道应用高效液相层析（ＨＰＬＣ）和气相蛋白质顺序自动分析仪对发现的静止性（Ｓｉｌｅｎｔ）异常血红蛋白β链变异体：ＨｂＨａｍｉｌｔｏｎ［α２β２１１（Ａ８）Ｖａｌ→Ｉｌｅ］分析的结果。A silent β-chain hemoglobin variant,not detectable by cellulose acetate membrane or starch gel electrophoresis was found using Trition X-100 acid-urea polyacrylamide gel electrophoresis.The abnormal β-X chain had a more anodic electrophoretic mobility;28.8%of the totalβchain was of the abnormal type.Structural analysis using highper-formance liquid chromatography (HPLC) and 470A gas phase protein sequncer microsequencing procedures indicated a valine to isoleucine substitution at position β11(A8).The variant is identified to be hemoglobin Hamiltion or α2β211(A8)Val→lle,being the first case found in China.The proband was a 21-year-old male with moderate anemia,living in Guangxi Yulin. Family study showed that the proband's mother,sister and brother also carry hemoglobin Hamilton. They are all heterozygotes for the hemoglobin variant,having no distinct clinical symptoms.

关 键 词：异常血红蛋白 高效液相色谱 

分 类 号：R446.112[医药卫生—诊断学]