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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
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
关键词
异常血红蛋白
高效液相色谱
Silent abnormal hemoglobin
High performance liquid chromatography
Gas phase protein sequencer
Amino acid sequence
