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