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. - RESTRICTION FRAGMENT LENGTH POLYMORPHISMS (RFLP). . -GLOBIN MUTATIONS AND SICKLE CELL DISORDER (SCD). Well over 700 abnormal forms of haemoglobin have been identified and characterised to some extent on the basis of the mutation responsible and/or clinical consequences. . 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. Point mutations. single base change . silent mutation. no amino acid change. redundancy in code. missense. change amino acid. Changes the final protien. nonsense. change to stop codon. Stopping prematurely . The sequence of bases in DNA are like the letters of a coded message or even the letters of a simple alphabet. . If we change the sequence of the letters do we change the nature of the message?. That . Understand how they occur. Analyze the different types of mutations. Understand how mutations affect amino acid sequences and proteins. Objective. Central Dogma. DNA is transcribed into RNA, RNA is translated into proteins. Small-scale mutations. Missense mutations. Nonsense mutations. Silent mutations. Frameshift mutations. Large scale mutations. Causes. Mutagens. The results of mutation. Mutations. Genetic mutations are changes in the DNA sequence, caused by various mechanisms.. 1- what is the mode of inheritance in the vast majority f spherocytosis cases?. Autosomal dominant. Autosomal recessive. X-linked dominant. X linked recessive. 2- The amino acid present at the sixth position of the normal alpha-globin chain is replaced by which one of the following amino acids in sickle cell disease?. 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. #. everythingyouneedtoknow. Dr. . Tish O’Reilly, . MD, . FRCPC. Division of . Hematopathology NSHA, Dalhousie University. 2021 CAP-ACP Residents’ Review Course. Tish.oreilly@nshealth.ca. Disclosures. DEFINITION: . Thalassemia is blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of . haemoglobin. .. CAUSE:. . Haemoglobin. made of 2 proteins: . F.I.B.M.S (Int. Medicine) , F.I.B.M.S (Hematology). DEFINITION. Thalassemias . are inherited blood disorders characterized by defect . in the rate of synthesis of one . of the . globin chains.. Resultant imbalance of globin chain production may cause ineffective . . 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).