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本文是对一个印度尼西亚血统的血红蛋白E病家系的研究报告。 (1) 应用血红蛋白理化性质测定、分子杂交、肽链解离和结构分析技术,证实先证者及其母亲和大姐均含有血红蛋白E,其分子结构的变化是血红蛋白β链N端第26位的谷氨酸变为赖氨酸(β~(26Glu→Lys)),在国内首次鉴定出血红蛋白E的结构异常。 (2) 血红蛋白分析证实本文先证者的父亲和二姐都是β地中海贫血的杂合体,先证者则是从母亲遗传HbE基因和从父亲遗传β地中海贫血基因构成的双杂合体(HbE/β-地中海贫血)。据此,对本病的分子遗传学进行讨论。
This article is a study of a pedigree of hemoglobin E in Indonesian ancestry. (1) The use of hemoglobin physical and chemical properties, molecular hybridization, peptide chain dissociation and structural analysis technology to prove that the proband and her mother and sister contain hemoglobin E, the molecular structure of the hemoglobin β chain N-terminal 26 Glutamic acid into lysine (β ~ (26Glu → Lys)), the first time in China identified hemoglobin E structural abnormalities. (2) Hemoglobin analysis confirmed that the father and second sister of this paper were all heterozygotes of β-thalassemia. The probands were from the mother’s genetic HbE gene and the double heterozygote (HbE / β-thalassemia). Accordingly, the molecular genetic genetics of the disease are discussed.