第八章 生化遗传（The eighth chapter is biochemical inheritance）.docVIP

第八章 生化遗传（The eighth chapter is biochemical inheritance） The eighth chapter is biochemical genetic disease Most of the genetic patterns are AR, the minority is XR, and very few are AD Haptoglobin syndrome Two hemophilia Three, enzyme protein disease Four 、 receptor protein disease Five 、 carrier protein disease of membrane transport Haptoglobin syndrome (1) structure and genetic control of normal human hemoglobin; 1. Structure and type of hemoglobin; 2. Structure of alpha globin gene and beta globin gene; 3. Development and evolution of globin peptide chain (two) abnormal hemoglobin 1. Hemoglobin structure variant (1) the mechanism of hemoglobin structure variation? 1 single base (single base variation): the transformation can be expressed as replacement (substitution) or transversion (transversion), (the mutation of termination codon mutation of terminator codon). The codon deletion or insertion (codon deletion/insertion) the frameshift mutation (frame-shift mutation) insertion or deletion of bases is not a multiple of 3, caused by the mutation site after the codons are changed, leading to frameshift mutation. Fusion gene (linkage gene) (fusing gene) splicing of two non homologous gene fragments, called fusion gene. The functional changes of hemoglobin variants: solubility decreased Hb S; unstable hemoglobin Hb Bristol beta 67, O2 days valerian; affinity increased Hb Bristol beta 67, O2 days valerian; reduced affinity for Hb Zurich beta 67 group to fine; methemoglobin formation Hb M Boston alpha 58 group, a rate reduction of Hb cheese; CS (2) genetic effects and clinical manifestations of structural variants of hemoglobin: The main clinical symptoms of hemolytic anemia:?? cyanosis? Compensatory erythrocytosis Cases: (****a) sickle cell anemia (sickle, cell, anemia), that is, Hb S disease The incidence of principle: beta 6, alpha alpha beta Valley valerian s beta s Hb S/S Normal: CCT-GAG-GAG; Hb S: CCT-GTG-GAG Endonuclease MstII recognition site: CCTNAGG ? clinical f