摘要
本文报道了一例祖籍是上海市宝山县的遗传性青紫的病人,家系调查中发现,此病至少遗传了四代。应用醋酸纤维薄膜电泳能从患者溶血液中分离出一种快速异常的血红蛋白。通过血红蛋白理化性质测定和结构分析,证实其α链N端第87位的组氨酸被酪氨酸替代,即血红蛋白MIwate[α87(F8)His→Tyr]。该例异常血红蛋白在中国属首次报道。
An electrophoretically fast moving hemoglobin variant,Hb M Iwate,was found in a 40-year-old woman living in Baoshan County,Shanghai.This variant was inherited by at least four successive generations in her family.Hemoglobin analyses included the determination of physical and chemical qualities,the separation of abnormal chain(αx)by CM-22 cellulose column chromatography,digestion ofαx chain with TPCK trypsin,the isolation of abnormalαT9 peptide(αxT9)and the determination of amino acid composition and sequence ofαxT9 peptide.All these results indicated thatα87 histidine was replaced by tyrosine and hence identified as Hb M Iwate(α287His→Tyrβ2).This is the first case of Hb M lwate reported in China.
出处
《上海医学》
CAS
1983年第4期212-214,共3页
Shanghai Medical Journal
基金
美国公共卫生服务部科学基金(USPHS Grant HLB-05168)资助
