的东西医学遗传学2013-molecular disease.pptVIP

★ molecular disease (分子病) 基因突变导致蛋白质分子结构和数量的异常，从而引起机体结构功能障碍的一类疾病。 分 子 病 hemoglobinopathy (血红蛋白病) 1．Structure of Hemoglobin Heterotetramer （异四聚体）: α-like chain×2 (类α链) β-like chain×2 (类β链) 2 ． Classification of globin α-like chain (has 141 amino acids): ? -- expressed in embryo α-- expressed in fetus and adult β-like chain (has 146 amino acids): ? -- expressed in embryo ? -- expressed in fetus （ and adult ） ?、? -- expressed in adult 3．Development of globin 4．Thalassemia Thalassemia is inherited anemia caused by decreased synthetic rate of hemoglobin. 地中海贫血是由血红蛋白合成量下