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1953-2003 Reem M. Sallam, MD.PhD.. Reem M. Sallam, MD.PhD.

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Presentation on theme: "1953-2003 Reem M. Sallam, MD.PhD.. Reem M. Sallam, MD.PhD."— Presentation transcript:

1 1953-2003 Reem M. Sallam, MD.PhD.

2

3 http://www.genome.gov/10005139 Reem M. Sallam, MD.PhD.

4 James D. WatsonFrancis H. C. Crick James D. Watson (1928-) & Francis H. C. Crick (1916-2004) in 1953: discovered that the chemical structure of DNA meets the unique requirements for a substance that encodes genetic information. They described the structure of the DNA - They were awarded Nobel prize in 1962. Reem M. Sallam, MD.PhD.

5 Oswald T. Avery Colin MacLeod Maclyn McCarty Avery (1877-1955), McCarty (1911-) & MacLeod (1909-1972) identified DNA as the "transforming principle: genetic material" responsible for specific characteristics in living organism. Reem M. Sallam, MD.PhD.

6 Condensation-Decondensation of Chromosomes Reem M. Sallam, MD.PhD.

7 Mitosis in Cell Cycle Reem M. Sallam, MD.PhD.

8 Meiosis I Meiosis II Reem M. Sallam, MD.PhD.

9 Facial rash (angiofibroma) in a patient with tuberous sclerosis http://en.wikipedia.org/wiki/Tuberous_sclerosis Reem M. Sallam, MD.PhD.

10 http://www.marchofdimes.com/professionals/681_1204.asp Achondroplasia. Reem M. Sallam, MD.PhD.

11 - Most frequent autosomal recessive (AR) disorder (1 in 200 births in Caucasians) - Expressed only in homozygotes. - Heterozygote carriers are normal phenotypically - If both parents are heterozygote to abnormal gene than there is 1 in 4 (25%) chance of having child with cystic fibrosis (homozygous). - If one parent has cystic fibrosis (homo) while the other parent is normal, then all childrens will be carriers of the abnormal gene. Cystic fibrosis

12 Cystic fibrosis CFTR Reem M. Sallam, MD.PhD.

13 Genetic defect(s) in CFTR >1000 Mutations discovered Deletion Mutation The most common is 3-base Deletion Mutation in the gene coding for CFTR → ∆F508 → Mis-folded CFTR → easily degraded protein chromosome 7 Reem M. Sallam, MD.PhD.

14 http://ghr.nlm.nih.gov/chromosome=MT Mitochondrial DNA Reem M. Sallam, MD.PhD.

15 Fibers of Hb S with all 8 sub-units Reem M. Sallam, MD.PhD.

16 Hardy-Weinberg equilibrium (1908) A law for calculating genotype frequencies from allele frequencies. An English mathematician A German physician Reem M. Sallam, MD.PhD.

17 Online Resource How Proteins Are Made? –An online animated presentation that explains precisely how a protein is created. –http://www.genome.gov/Pages/Education/DN ADay/Animations/HowProteinsAreMade.html Reem M. Sallam, MD.PhD.

18 Online Resource Genetic Polymorphism –An online animated presentation that explains Single Nucleotide Polymorphisms (SNPs) –http://www.genome.gov/Pages/Education/DN ADay/Animations/MakingSNPsMakeSense.ht ml Reem M. Sallam, MD.PhD.


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