分子诊断学-English课件

1、1,分子生物学进展,郑 芳 MD., Ph.D. 教授，博士生导师, 天津医科大学 2009,2,Introduction to Molecular Diagnostics,3,Presentation Outline,Concept of Molecular Diagnostics History of Molecular Diagnostics Impact on Human Diseases Basis for Molecular Assay Management of the course,4,1. Molecular Diagnosis,Molecular diagnosis of human disorders is referred to as the detection of the various pathogenic mutations in DNA and /or RNA samples in order to facilitate detection, diagnosis, sub-classification, prognosis, and monitorin

2、g response to therapy.,5,1. Molecular Diagnostics,The use of molecular biology techniques to expand scientific knowledge of the natural history of diseases, identify people who are at risk for acquiring specific diseases, and diagnose human diseases at the nucleic acid level.,6,1. Molecular Diagnostics,Molecular diagnostics combines laboratory medicine with the knowledge and technology of molecular genetics and has been enormously revolutionized over the last decades, benefiting from the discove

3、ries in the field of molecular biology.,7,The information revolution in molecular biology is permeating every aspect of medical practice The rate of disease gene discovery is increasing exponentially, which facilitates the understanding diseases at molecular level Molecular understanding of disease is translated into diagnostic testing, therapeutics, and eventually preventive therapies,1. Molecular Diagnostics: Emergence,8,1. Molecular Diagnostics: Significance,To face the new century, the medic

4、al practitioner not only understand molecular biology, but must also embrace the use of this rapidly expanding body of information in his medical practice, whether practicing family medicine, oncology, obstetrics and gynecology, pathology, or any other medical specialty.,9,To introduce essential concepts in molecular diagnostics that impact on the identification of novel markers of human diseases To develop and apply useful molecular assays to monitor disease, determine appropriate treatment str

5、ategies, and predict disease outcomes.,1. Molecular Diagnostics: Goal,10,2. History of Molecular Diagnostics,1865,Gregor Mendel, Law of Heredity,1866,Johann Miescher, Purification of DNA,1953,1970,Recombinant DNA Technology,1977,DNA sequencing,1985,In Vitro Amplification of DNA (PCR),2001,The Human Genome Project,Watson and Crick, Structure of DNA,The Molecular Biology Timeline,Sickle Cell Anemia Mutation,1949,11,2. History of Molecular Diagnostics,Pauling introduced the term molecular disease i

6、n the medical vocabulary, based on their discovery that a single amino acid change leads to a sickle cell anemia. In principle, their findings have set the foundations of molecular diagnostics.,Sickle cell anemia is a genetic disease which is caused by a single nucleotide change in the 6th aa of the -chain of hemoglobin.,Sickle cell anemia,12,J.D. Watson and F.H.C. Crick (1953),Discovery of DNA Structure,13,J.D. Watson and F.H.C. Crick (1953) A structure for deoxyribose nucleic acid. Nature 171:

7、737 “We wish to suggest a structure for the salt of deoxyribose nucleic acid (D.N.A.). This structure has novel features which are of considerable biological interest.”,Discovery of DNA Structure,One of the most important biological discovery in the 20th century,14,Discovery of DNA Structure,Rosalind E. Franklin 19201958,The structure of DNA was determined using X-ray diffraction techniques. Much of the original X-ray diffraction data was generated by Rosalind E. Franklin.,15,2. History of Molec

8、ular Diagnostics,The PCR Revolution,Kary Mullis 1985 41y Invention of PCR 1993 49y Received the Noble Prize,16,2. History of Molecular Diagnostics,The PCR Revolution PCR has greatly facilitated and revolutionized molecular diagnostics. Its most powerful feature - large amount of copies of the target sequence generated by its exponential amplification,- allows the identification of a known mutation within a single day. markedly decreased need for radioactivity, allowed molecular diagnostics to en

9、ter the clinical laboratory.,17,U.S. Government project coordinated by the Dept. of Energy and NIH Goals of the Human Genome Project (19902006) To identify all of the genes in human DNA; To determine the sequences of the 3 billion bases that make up human DNA; To create databases; To develop tools for data analysis; and To address the ethical, legal, and social issues that arise from genome research,2. History of Molecular Diagnostics,Human Genome Project,18,Discovery of potential novel molecular markers of human diseases Identification of novel molecular markers of human diseases Utility of molecular markers to develop useful molecular assays for detection, diagnosis, and prediction of disease outcomes,3. Impact on Human Diseases,19,3. Impact on Human Diseases: Advantage,Monitor diseases more accurately Allows for early treatment and better patient care Determine most appropriate treatment Reduces or eliminates unnecessary treatment Reduces or eliminates inadequate treatment Y

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