PPT-Beta Globin and Mutations

Alexandra Childs and Ryan Edwards Beta Globin Chromosome position 11p155 DNA nucleotides position 52466965248301 To the left of this gene in HBD or Delta globin and to the right of this gene is OR51v1 or Olfactory Receptor. α. -chains in . β-. thalassemia. G. Vassilopoulos MD PhD. Associate Professor, Hematology and Internal Medicineci. U. of Thessalia Medical School. Principal. Investigator, BRFAA. Division of Genetics & Gene Therapy. and Function. Chapter 3: . Globular . Proteins. Part . 2. II. GLOBULAR HEMEPROTEINS. E. Allosteric effects. Binding . of . CO. 2. : . Most . of the . CO. 2. produced . in . metabolism is hydrated . and transported as bicarbonate . http://io9.gizmodo.com/10-unusual-genetic-mutations-in-humans-470843733. Unharmful. Mutations. Mila . Kunis. has complete . heterochromia. . Kate Bosworth has . sectoral. . heterochromia. . Angelina Jolie has central . Thalassemia. Beta-thalassaemia is a global disease - most prevalent in South Asia, the Far East, the Middle East, and Mediterranean countries. . Distribution is attributed largely to natural selection of heterozygote carriers because of protection against falciparum malaria. . MD; FRCP (London); . FRCPEdin. ; . FRCSEdin. T. halassemia. Hemoglobin molecule. : is the iron-containing oxygen-transport . metalloprotein. in the red blood cells of all vertebrates.. The normal . haemoglobin. Given a mutation, identify its type. Predict how a mutation will affect a protein.. Mutations. Changes in genetic material (DNA). 2 main types of mutations. Point mutation- change in one or a few nucleotides (letters). Kakavoulis. . Nikolaos. Patras Ioannis. What is . Thalassaemia. ?. . Thalassaemia. is a group of inherited disorders of hemoglobin synthesis characterized by . reduced . or . absen. ce. . of one . Patel. ASSISTANT PROFESSOR. BIOCHEMISTRY, GMCS. NORMAL ADULT HUMAN HEMOGLOBIN. Structure and Function of . Hb. Oxygen dissociation curve. P50 ???. T & R form of Hb. Structure and Function of . Hb. kindly visit us at www.nexancourse.com. Prepare your certification exams with real time Certification Questions & Answers verified by experienced professionals! We make your certification journey easier as we provide you learning materials to help you to pass your exams from the first try. kindly visit us at www.nexancourse.com. Prepare your certification exams with real time Certification Questions & Answers verified by experienced professionals! We make your certification journey easier as we provide you learning materials to help you to pass your exams from the first try. Science. Learning intention. To understand the different types of mutations. . You will need. A pen and a piece of paper or a laptop to record your answers. . You may need the internet to search for answers. . مؤيد علوش. Introduction. THE HAEMOGLOBIN MOLECULE. Human . haemoglobin. is formed from two pairs of . globin chains . each with a . haem. . group attached.. Seven . different globin . chains are . . Assist. Prof. . Dr.Maysem. . Mouayad. . Alwash. . Note:. The . thalassaemias. are classified into . α. -, . β. -, . δβ. -, . γδβ. -, . δ. -, . γ. - and . εγδβ. -thalassaemias, according to the type of globin chain(s). of . haemoglobin. Ass. . Prof. . . Abeer. . Anwer. Ahmed. Normal adult blood contains three types of . haemoglobin. . Hb. . A . . Hb. . F . . Hb. . A2. Structure .