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 ψ1 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