'Globin gene' presentation slideshows

The Thalassaemia Syndromes

The Thalassaemia Syndromes. Ahmad Sh. Silmi Msc Haematology, FIBMS. The Thalassaemia Syndromes. The thalassaemia are heterogeneous group of inherited disorders, which are characterized by reduced or absent synthesis of one or more globin chain type.

1.59k views • 128 slides

Genetics of the Hemoglobinopathies & Newborn Screening for the Hemoglobinopathies

Genetics of the Hemoglobinopathies & Newborn Screening for the Hemoglobinopathies. ??? zhangxianning@zju.edu.cn Tel? 13105819271; 88208367 Office: A705, Research Building 2013/03. Required Reading. Thompson &Thompson Genetics in Medicine, 7 th Ed ????? 2009 ? ? Pages 237-257;

1.19k views • 67 slides

Genetics of the Hemoglobinopathies & Newborn Screening for the Hemoglobinopathies

Genetics of the Hemoglobinopathies & Newborn Screening for the Hemoglobinopathies. ??? zhangxianning@zju.edu.cn Tel? 13105819271; 88208367 Office: A705, Research Building 2013/03. Required Reading. Thompson &Thompson Genetics in Medicine, 7 th Ed ????? 2009 ? ? Pages 237-257;

712 views • 67 slides

Chapter 15 : Post-transcriptional events II: Capping and polyadenylation

Chapter 15 : Post-transcriptional events II: Capping and polyadenylation. Cap structure. Sequence of events in capping. a. a phosphohydrolysis removes the terminal phosphate from a pre-mRNA; b . a guanylyl transferase adds the capping GMP.

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Chapter 4: Clusters and repeats

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DNA and Chromosome Structure

DNA and Chromosome Structure. Chromosomal Structure of the Genetic Material. The Essential Structure of DNA. The Replication Challenge. Size of an average human chromosome 130 million bp Rate of replication ~ 50 bp per sec Fidelity of replication. Replication of the Genetic Material.

805 views • 54 slides

DNA and Chromosome Structure

DNA and Chromosome Structure. Chromosomal Structure of the Genetic Material. The Essential Structure of DNA. The Replication Challenge. Size of an average human chromosome 130 million bp Rate of replication ~ 50 bp per sec Fidelity of replication. Replication of the Genetic Material.

557 views • 54 slides

Mutations

Mutations. Some Definitions. 1. Mutation. Any change in the DNA which if occurs in germ cells is heritable but if occurs in somatic cells is not heritable.

594 views • 53 slides

Bone marrow transplantation in sickle cell disease

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db -Thalassemia

1.2k views • 42 slides

Chapter 1 GENE

Chapter 1 GENE. PART IV CLUSTERS AND REPEATS. Introduction. Key Terms A gene family consists of a set of genes whose exons are related; the members were derived by duplication and variation from some ancestral gene.

650 views • 41 slides

N.A. Kolchanov and V.G. Levitsky

Kolchanov N.A., IC&G, BGRS 2000. 1. NUCLEOSOME FORMATION SITES: CODING, ORGANIZATION AND FUNCTION. Institute of Cytology and Genetics of SB RAS, Novosibirsk, Russia. N.A. Kolchanov and V.G. Levitsky. kol@bionet.nsc.ru. levitsky@bionet.nsc.ru. Kolchanov N.A., IC&G, BGRS 2000.

521 views • 37 slides

17. Developmental Regulation

17. Developmental Regulation. Developmental Regulation. Many inherited diseases result from mutations in genes regulating development Treatments/therapies may be discerned by understanding regulatory mechanisms Three basic points of control: 1. Transcriptional regulation

514 views • 37 slides

HEMOGLOBIN

HEMOGLOBIN. Heme is the prosthetic group of hemoglobin, myoglobin, & cytochromes MVMVMPPM. Structure of Heme. Normal Hemoglobin. HEME-CONTAINING PROTEINS ? Hemoglobin ? Myoglobin ? Cytochromes ? Catalase ? Some peroxidases. Synthesis of Hemoglobin. GLYCINE + SuccinylCoA.

830 views • 31 slides

Hemoglobinopathies

Hemoglobinopathies. Dr. Shumaila Asim Lecture #6. Hemoglobinopathies. Disorders of hemoglobin caused by: Synthesis of structurally abnormal Hb Synthesis of insufficient quantities of normal Hb Combination of both Usually inherited

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Hemoglobin Structure & Function

Hemoglobin Structure & Function. Objectives of the Lecture. 1- Understanding the main structural & functional details of hemoglobin as one of the hemoproteins . 2- Identify types & relative concentrations of normal adult hemoglobin with reference to HBA1c with its clinical application.

1.77k views • 27 slides

Molecular pathology - effect of mutations

Molecular pathology - effect of mutations. What is molecular pathology?. Pathology Study of diseases Molecular biology Study of macromoleculs essential for life, such as nucleic acids and proteins, and their role in cell replication and transmission of genetic information

1.01k views • 24 slides

Hemoglobin Structure & Function

Hemoglobin Structure & Function. Objectives of the Lecture. 1- Understanding the main structural & functional details of hemoglobin as one of the hemoproteins . 2- Identify types & relative concentrations of normal adult hemoglobin with reference to HBA1c with its clinical application.

597 views • 21 slides

Hemolytic anemias - Hemoglobinopathies

Hemolytic anemias - Hemoglobinopathies. Part 2. Thalassemias. Thalassemias are a heterogenous group of genetic disorders Individuals with homozygous forms are severely affected and die early in childhood without treatment Heterozygous individuals exhibit varying levels of severity

719 views • 19 slides