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Prenatal Diagnostic of Rett Syndrome Proposal - Genetics
 

Prenatal Diagnostic of Rett Syndrome Proposal - Genetics

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    Prenatal Diagnostic of Rett Syndrome Proposal - Genetics  Prenatal Diagnostic of Rett Syndrome Proposal - Genetics Presentation Transcript

    • Prenatal diagnostic of rett syndrome
      Nicole Colón Carrión
    • Rettsyndrome
      Is a disorder of the nervous system that leads to a regression in development.
      Is classified as an X-linked dominant inheritance disease, which means that it mostly affects girls.
      It affects approximately 1 person per 10,000
      Is caused by mutations in the MECP2 gene, located on chromosome X.
    • Introduction
      Rett syndrome is not evident at birth, and occurs primarily during the second year of life.
      Infants with this syndrome seem to grow and develop normally, but then they stop developing.
      Doctors clinically diagnose Rett syndrome by observing signs and symptoms during the child's early growth and development but at this time there’s no diagnostic before the syndrome is visible.
    • MECP2
      MECP2 is a gene that provides instructions for making its protein product, MECP2.
      MECP2 is essential for the normal function of nerve cells.
      The MeCP2 protein is likely to be involved in turning off ("repressing" or "silencing") several other genes.
      This prevents the genes from making proteins when they are not needed.
    • Long term goal
      This investigation aims to find a prenatal diagnosis of Rett Syndrome.
      The faster you treat the patient, less severe will be the syndrome.
    • Objectives
      Verify if a prenatal test for the presence of a MCP2 gene mutation in a rat model could be used as a Rett syndrome diagnosis.
    • hypothesis
      If the sequence of DNA hybridizes the mutation will not be present. If the DNA does not hybridize the mutation is present.
    • MetHodology
      Performed in 2 group of 10 pregnant rats.
      One group will contain the mutation of the gene MECP2, while the other will be normal.
      First a small sample of cells of the patient, in this case the mouse is extracted by a process called Chorionic Villus Sampling.
      Then the DNA molecules are replicated by a process called PCR.
    • Pcr method
      The DNA molecules of the amniotic fluid, polymerases, nucleotides and primers of the gene MECP2 are heated to 95°C. This causes the two complementary strands of DNA to separate.
      Lowering the temperature to 50°C causes the primers of MECP2 gene to bind to the single-stranded DNA "template". The polymerase attaches and starts copying the template.
      • The temperature is again increased, this time to 72°C. The polymerases add further nucleotides to the developing DNA strand and at the same time, any loose bonds that have formed between the primers and DNA segments that are not fully complementary are broken.
      • After 20 cycles about a million molecules are cloned from a single segment of double stranded DNA.
    • Finally the DNA will be sequenced and then will be compared by a process called DNA hybridization.
    • Expectedresults
      The DNA of the rats containing the mutation will not hybridize while the DNA of the normal rats will.
    • References
      • Professor JosetteManchini.Rettsyndrome. July 2002. http://www.orpha.net/data/patho/Pro/en/Rett-FRenPro91.pdf
      • Blanco, Natalia. Manresa, Virginia. Mesch, Gisela. Melgarejo, Mauricio. SINDROME DE RETT: CRITERIOS DIAGNOSTICOS . January 2006.
      • National Institute of Child Health and Human Development. Rett syndrome. April 2006.
      • Genetic engineering & Biotechnology News.PCR Gains Momentum with New Applications. July 2005. http://www.genengnews.com/gen-articles/pcr-gains-momentum-with-new-applications/993/
      • Gaston Calfa,1 Alan K. Percy,1,2 and Lucas Pozzo-Miller. ON EXPERIMENTAL MODELS OF RETT SYNDROME BASED ON Mecp2 DYSFUNCTION. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059199/?tool=pubmed
    • Thanks for your attention