Human Genome
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The document provides information about Marwan Alhalabi, a professor of reproductive medicine and clinical director of an assisted reproduction center in Damascus, Syria. It then discusses the human genome project, including its goals to sequence human DNA and identify genes. It explains key concepts such as genes, genomes, DNA, RNA, transcription and translation. The rest of the document outlines various applications and ethical considerations of genomic research.
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Human Genome
- 2. • The Human Genome Project goals : • To determine the nucleotide sequence all DNA in the human genome. • To identify the location and sequence of every human gene.
- 3. • Genome: All of the DNA for an organism • Human Genome • Nucleus: 3 billion base pairs packaged into chromosomes • Mitochondrion: 16,600 base pairs packaged in one circular chromosome
- 9. 1. Transcriptional control sequences: bind transcription factors that can activate or inhibit transcription 2. Promoter: recruits RNA polymerase and marks the start of the transcribed region 3. Transcript: corresponds to the RNA sequence Can be further subdivided into: 4. Termination sequences: required to terminate transcription
- 10. • DNA copy itself: • Replication • DNA synthesize RNA • Transcription • RNA synthesize protein • Translation Two Main Process: Transcription and Translation
- 11. DNA molecule Gen e 1 Gene 2 Gene 3 DNA strand TRANSCRIPTION RNA Polypeptide TRANSLATION Codon Amino acid Central Dogma of Biology — How does the information flow in biological systems?
- 12. The central dogma of biology is that information stored in DNA is transferred to RNA molecules during transcription and to proteins during translation.
- 13. Work to keep the cell alive DNA RNA Protein Transcription Translation Carries the directions to the cytoplasm Directions to make proteins are safely stored in the nucleus
- 17. • DNA Level • Chromosomal Level • Genome Level
- 18. • change in a DNA sequence that affects genetic information. mRNA Amino acids Mutant DNA mRNA DNA
- 19. • 1) Duplications • 2) Deletions • 3) Translocations • 4) Inversions
- 20. • These result in ploidy changes. • Aneuploidy. • Plus or minus one or a few chromosomes. 3n or more = polyploidy n = haploid (gametes) 2n = diploid (normal individual)
- 22. • improvements in medicine. • microbial genome research for fuel and environmental cleanup. • DNA forensics. • improved agriculture and livestock. • better understanding of evolution and human migration. • more accurate risk assessment.
- 24. • Improved diagnosis of diseases and help with early detection of genetic disorders
- 25. • Gene Therapy. • Swapping an abnormal gene for a normal one. • Repairing an abnormal gene
- 26. • improved agriculture : • Help create disease, insect, drought resistant, and more nutritious plants.
- 28. • Scientists transferred daffodil genes into rice. • Rice with beta-carotene may help prevent vitamin A deficiencies.
- 30. •Study evolution through germline mutations in various lineages . •Study migration of different population groups based on female genetic inheritance . •Study mutations on the Y chromosome to trace lineage and migration of males.
- 31. •Greater accuracy in identifying the suspect of a crime by matching their DNA profile with that of any body tissue found at the scene of the crime. •Paternity testing and other family relationships. •Exoneration of individual falsely accused of a crime. •Determine pedigree for seed or livestock breeds
- 33. •Assess health damage and risks caused by radiation exposure, including low-dose exposures . •Assess health damage and risks caused by exposure to mutagenic chemicals and cancer-causing toxins. •Reduce the likelihood ofheritable mutations.
- 35. • Planned in 1988. • Begun formally in 1990. • Originally planned to last 15 years, but rapid technological advances accelerated completion date to 2003. • Announced è 97% finished in 2000 • Final HGP papers were published in 2006.
- 45. • Human genome has a lot of “junk” so what is the value of sequencing it? • Is it too expensive? • HGP cost ~ $3 billion dollars. About $1 per base pair.
- 46. • Fairness in the use of genetic information • Who should have access to personal genetic information, and how will it be used? • Employers • Insurers • Schools • Courts • Adoption agencies • Military
- 50. 0 20,000 40,000 60,000 80,000 100,000 120,000 140,000 Early estimates Later estimates Draft sequence Final sequence
- 51. More than 99.9% of human DNA sequences are the same across the population of all humans in the world.
- 79. CACACTTGCATGTGAGAGCTTCTAATATCTAAATTAATGTTGAATCATTATTCAGAAACAGAGAGCTAACTGTTATCCCATCCTGACTTTATTCTTTATG AGAAAAATACAGTGATTCC AAGTTACCAAGTTAGTGCTGCTTGCTTTATAAATGAAGTAATATTTTAAAAGTTGTGCATAAGTTAAAATTCAGAAATAAAACTTCATCCTAAAACTCTGTGTGTTGCTTTAAATAAT C AGAGCATCTGC TACTTAATTTTTTGTGTGTGGGTGCACAATAGATGTTTAATGAGATCCTGTCATCTGTCTGCTTTTTTATTGTAAAACAGGAGGGGTTTTAATACTGGAGGAACAA CTGATGTACCTCTGAAAAGAGA AGAGATTAGTTATTAATTGAATTGAGGGTTGTCTTGTCTTAGTAGCTTTTATTCTCTAGGTACTATTTGATTATGATTGTGAAAATAGAATTTATCC CTCATTAAATGTAAAATCAACAGGAGAATAGCAAAAACTTATGAGATAGATGAACGTTGTGTGAGTGGCATGGTTTAATTTGTTTGGAAGAAGCACTTGCCCCAGAAGATACACA AT GAAATTCATGTTATTGAGTAGAGTAGTAATACAGTGTGTTCCCTTGTGAAGTTCATAACCAAGAATTTTAGTAGTGGATAGGTAGGCTGAATAACTGACTTCCTATC ATTTTCAGGTT CTGCGTTTGATTTTTTTTACATATTAATTTCTTTGATCCACATTAAGCTCAGTTATGTATTTCCATTTTATAAATGAAAAAAAATAGGCACTTGCAAATGTCAGATCACTTGCCTGTGGT CATTCGGGTAGAGATTTGTGGAGCTAAGTTGGTCTTAATCAAATGTCAAGCTTTTTTTTTTCTTATAAAATATAGGTTTTAATATGAGTTTTAAAATAAAATTAATTAGAAAAAGGCA A ATTACTCAATATATATAAGGTATTGCATTTGTAATAGGTAGGTATTTCATTTTCTAGTTATGGTGGGATATTATTCAGACTATAATTCCCAATGAAAAAACTTTAAAAAATGCTAGTG A TTGCACACTTAAAACACCTTTTAAAAAGCATTGAGAGCTTATAAAATTTTAATGAGTGATAAAACCAAATTTGAAGAGAAAAGAAGAACCCAGAGAGGTAAGGATATAACCTTAC C AGTTGCAATTTGCCGATCTCTACAAATATTAATATTTATTTTGACAGTTTCAGGGTGAATGAGAAAGAAACCAAAACCCAAGACTAGCATATGTTGTCTTCTTAAGGAGCCCTCCCC T AAAAGATTGAGATGACCAAATCTTATACTCTCAGCATAAGGTGAACCAGACAGACCTAAAGCAGTGGTAGCTTGGATCCACTACTTGGGTTTGTGTGTGGCGTGACTCAGGTAATC T CAAGAATTGAACATTTTTTTAAGGTGGTCCTACTCATACACTGCCCAGGTATTAGGGAGAAGCAAATCTGAATGCTTTATAAAAATACCCTAAAGCTAAATCTTACAATATTCTCAA G AACACAGTGAA ACAAGGCAAAATAAGTTAAAATCAACAAAAACAACATGAAACATAATTAGACACACAAAGACTTCAAACATTGGAAAATACCAGAGAAAGATAATAAATAT TTTACTCTTTAAAAATTTAGTTAAAAGCTTAAACTAATTGTAGAGAAAA AACTATGTTAGTATTATATTGTAGATGAAATAAGCAAAACATTTAAAATACAAATGTGATTACTTAAAT TAAATATAATAGATAATTTACCACCAGATTAGATACCATTGAAGGAATAATTAATATACTGAAATACAGGTCAGTAGAATTTTTTTCAATTCAGCATGGAGATGTAAAAAATGAAA A TTAATGCAAAAAATAAGGGCACAAAAAGAAATGAGTAATTTTGATCAGAAATGTATTAAAATTAATAAACTGGAAATTTGACATTTAAAAAAAGCATTGTCATCCAAGTAGATGT G TCTATTAAATAGTTGTTCTCATATCCAGTAATGTAATTATTATTCCCTCTCATGCAGTTCAGATTCTGGGGTAATCTTTAGACATCAGTTTTGTCTTTTATATTATTTATTCTGTTTACTA C ATTTTATTTTGCTAATGATATTTTTAATTTCTGACATTCTGGAGTATTGCTTGTAAAAGGTATTTTTAAAAATACTTTATGGTTATTTTTGTGATTCCTATTCCTCTATGGACACCAAGGC T ATTGACATTTTCTTTGGTTTCTTCTGTTACTTCTATTTTCTTAGTGTTTATATCATTTCATAGATAGGATATTCTTTATTTTTTATTTTTATTTAAATATTTGGTGATTCTTGGTTTTCTCAGC C ATCTATTGTCAAGTGTTCTTATTAAGCATTATTATTAAATAAAGATTATTTCCTCTAATCACATGAGAATCTTTATTTCCCCCAAGTAATTGAAAATTGCAATGCCATGCTGCCATGTG G TACAGCATGGGTTTGGGCTTGCTTTCTTCTTTTTTTTTTAACTTTTATTTTAGGTTTGGGAGTACCTGTGAAAGTTTGTTATATAGGTAAACTCGTGTCACCAGGGTTTGTTGTACAGATC A TTTTGTCACCTAGGTACCAAGTACTCAACAATTATTTTTCCTGCTCCTCTGTCTCCTGTCACCCTCCACTCTCAAGTAGACTCCGGTGTCTGCTGTTCCATTCTTTGTGTCCATGTGTTCT C ATAATTTAGTTCCCCACTTGTAAGTGAGAACATGCAGTATTTTCTAGTATTTGGTTTTTTGTTCCTGTGTTAATTTGCCCAGTATAATAGCCTCCAGCTCCATCCATGTTACTGCAAAGA A CATGATCTCATTCTTTTTTATAGCTCCATGGTGTCTATATACCACATTTTCTTTATCTAAACTCTTATTGATGAGCATTGAGGTGGATTCTATGTCTTTGCTATTGTGCATATTGCTGCAA G AACATTTGTGTGCATGTGTCTTTATGGTAGAATGATATATTTTCTTCTGGGTATATATGCAGTAATGCGATTGCTGGTTGGAATGGTAGTTCTGCTTTTATCTCTTTGAGGAATTGCCAT G CTGCTTTCCACAATAGTTGAACTAACTTACACTCCCACTAACAGTGTGTAAGTGTTTCCTTTTCTCCACAACCTGCCAGCATCTGTTATTTTTTGACATTTTAATAGTAGCCATTTTAAC 5000 bases per page
- 81. • Single-nucleotide polymorphism • One-nucleotide difference in sequence of two organisms • Found by sequencing • Example: Between any two humans, on average one SNP every 1,000 base pairs ATCGATTGCCATGAC ATCGATGGCCATGAC
- 84. • The human genome is nearly the same in all people (99.9%). • Only 2% of the genome contains genes. • Humans have an estimated 20,500 genes, half of which are still unknown. • Half of all human proteins share similarities with those of other organisms.
- 85. 8585 Embryo biopsy Diagnosis by Transfer 1-2 unaffected embryos Fertilisation in vitro (IVF or ICSI) PCRFISH Accurate genetic diagnosisAppropriate Genetic Counselling DENATURING ANNEALING EXTENSION PRIMER TAQ TAQ
- 86. Ovarian Stimulation IVF Blastomere Biopsy on Day 3 Genetic Analysis Transfer of Unaffected Embryo Outcome Chromosomally Normal Baby
- 87. • Polar Body • Cleavage Stage • Blastocyst
- 91. • Polymerase Chain Reaction (PCR). • Fluorescence In Situ Hybridization (FISH). • CGH 24. • DNA Microarrays.