《医学遗传学 Medical Genetics》课程PPT教学课件（英文版）Molecular Disease

Medical Genetics Molecular disease

Molecular Disease Medical Genetics

☆1902, Garrod ae the incidence of alkaptonuria a study in clinical individuality 1948, Horlein h Weber g 令1949 Pauling L Sickle cell anemia, a molecular disease Science,110:543-5481949

❖ 1902, Garrod AE the incidence of alkaptonuria: a study in clinical individuality ❖ 1948, Horlein H & Weber G ❖ 1949, Pauling L Sickle cell anemia, a molecular disease. Science. 110: 543-548, 1949

Molecular disease a disease in which the manifestations are due to alterations in protein structure and quantity

Molecular Disease A disease in which the manifestations are due to alterations in protein structure and quantity

Structure of Hemoglobin

Structure of Hemoglobin

β- globin Ancestral globin gene Duplication a-globin Heme Mutation HEMOGLOBIN tRansposition Duplications and mutations Fetus Fetus Adult and adult Embryo Pseudogenes Embryo Pseudogene a-globin gene family B-globin gene family (chromosome 16) (chromosome 11) e1999 Add son Wesley Longman, inc

Hemoglobin Alpha Chain 16pter-p13.3 ya a2 a1 5 3″ 1313299100141

  1 2 1 5‘ 3’ 16pter-p13.3 1 31 32 99 100 141 Hemoglobin Alpha Chain

Hemoglobin Beta Chain 11p155 yg, B ‖= 5 3 13031104105146

11p15.5 ε G A ψ1 δ β 5’ 3’ Hemoglobin Beta Chain 1 30 31 104 105 146

Development of Hemoglobin 100 岁980 60 40 5日 0 20 少 2 68 Birth 2 4 0=6 8 Months

0 2 4 6 8 Birth 2 4 6 8 Months 100 80 60 40 Percentage of 20 globin synthesis(%) Development of Hemoglobin δ ζ ε α γ β α

Development of Hemoglobin Developmental Hemoglobin Hemoglobin Stage Composition Embryo Hb Gower Hb Gower Hb Portland A 272 Fetus HbF Adult Hb a a2p2 Hb a as

Developmental Stage Hemoglobin Hemoglobin Composition Embryo Hb Gower1 2 2 Hb Gower2 2 2 Hb Portland 2 G 2 2 A 2 Fetus Hb F 2 G 2 2 A 2 Adult Hb A 2 2 Hb A2 2 2 Development of Hemoglobin

Hemoglobinopathy Hereditary disorders that can result in moderate to severe anemia Abnormal hemoglobin is production of an abnormal globin chain Thalassemia is reduced production of selected globin chains

Hemoglobinopathy Abnormal hemoglobin is production of an abnormal globin chain. Thalassemia is reduced production of selected globin chains. Hereditary disorders that can result in moderate to severe anemia