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Human Genome Project and Post-genomic Challenge

Human Genome Project and Post-genomic Challenge. Prof. Stephen K.W. Tsui Department of Biochemistry Rm. 606, Mong Man Wai Building kwtsui@cuhk.edu.hk. Genetic Code.

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Human Genome Project and Post-genomic Challenge

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  1. Human Genome Projectand Post-genomic Challenge Prof. Stephen K.W. Tsui Department of Biochemistry Rm. 606, Mong Man Wai Building kwtsui@cuhk.edu.hk

  2. Genetic Code AATCGTCAGTCGGTCAGCAAGGGGTCCAATACTGCAGTCGGTCCAAAACGTAGTCAGTGCAGTCATGCAGTCATGCATGGTCAAACGTGCATGCATGCAGTCGTCCAGCGGGATCAGTCAAAGTCAAGTCTTTAGTCAA A DNA strand is a polymeric chain of nucleotides, symbolised by the letters A, G, C, T.

  3. The Human Genome • Contains about 3 x 109base pairs. • Codes for about 80,000 genes. • Only about 5% of the human genome is encoded for protein.

  4. Categories of Inherited Genetic Diseases • Single gene defects • Multiple gene defects • Abnormalities of chromosome number and structure

  5. Mutation in Cystic Fibrosis Normal Amino acidsIle Ile Phe Gly DNA SequenceT ATC ATC TTT GGT CF Patient DNA SequenceT ATC AT T GGT Amino acids Ile Ile Gly

  6. Goals of Human Genome Project • identify all the 100,000 genes in human DNA • determine the sequences of the 3 billion chemical base pairs that make up human DNA • store this information in databases • developtools for data analysis • transfer related technologies to the private sector • address the ethical, legal, and social issues (ELSI) that may arise from the project

  7. Human Genome Research in Hong Kong No. of ESTs generated: >20,000 No. of nucleotides sequenced: >8,000,000 No. of genes cloned and characterized: >20

  8. Hong Kong Bioinformatics Centre (Establishment in 1998)

  9. Tortoise and Hare Progress of HGP: http://www.ornl.gov/hgmis/project/progress.html Website of Celera: http://www.celera.com

  10. Opportunities in the Post-genomic Era • Characterization of disease genes by bioinformatics (e.g., homology search and three-dimensional structure modelling) and functional studies (Functional Genomics). • Studying the diversity of human genome in different population. The results can explain why an individual's genetic inheritance affects the body's response to drugs (pharmacogenomics).

  11. Opportunities in the Post-genomic Era The potential for using genes themselves to treat disease-known as gene therapy-is the most exciting application of Human Genome Project. • Two Approaches of Gene Therapy • Addition of an appropriately functioning normal gene • Replacement of an abnormal gene by a normal one

  12. Ethical, Legal and Social Implications • Diagnosis and screening • Genetic testing • The use of genetic information for reproductive choice • The handicapped • Confidentially of personal genetic information • The use of genetic information in relation to insurance • Gene therapy ELSI

  13. THE END

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