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  • Objectives: at The End of The Module, The Student Should Be Able To

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    Christian Lantano
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    1) The module objectives are to discuss how genes affect human diseases including Mendelian disorders, genetic defects like Marfan syndrome and Ehlers-Danlos syndrome, enzyme defects, multigenic disorders, and chromosomal disorders. 2) The case studies describe genetic disorders: sickle cell disease, hemophilia, and Down syndrome. Laboratory techniques are discussed like PCR and reverse transcriptase PCR for detecting COVID-19. 3) Objectives are met through case studies and discussion of the genetic basis and clinical manifestations of single gene disorders, as well as the use of diagnostic techniques like PCR and antibody testing for genetic diseases.

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    1) The module objectives are to discuss how genes affect human diseases including Mendelian disorders, genetic defects like Marfan syndrome and Ehlers-Danlos syndrome, enzyme defects, multigenic disorders, and chromosomal disorders. 2) The case studies describe genetic disorders: sickle cell disease, hemophilia, and Down syndrome. Laboratory techniques are discussed like PCR and reverse transcriptase PCR for detecting COVID-19. 3) Objectives are met through case studies and discussion of the genetic basis and clinical manifestations of single gene disorders, as well as the use of diagnostic techniques like PCR and antibody testing for genetic diseases.

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    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
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    29 views5 pages

    Objectives: at The End of The Module, The Student Should Be Able To

    Uploaded by

    Christian Lantano
    1) The module objectives are to discuss how genes affect human diseases including Mendelian disorders, genetic defects like Marfan syndrome and Ehlers-Danlos syndrome, enzyme defects, multigenic disorders, and chromosomal disorders. 2) The case studies describe genetic disorders: sickle cell disease, hemophilia, and Down syndrome. Laboratory techniques are discussed like PCR and reverse transcriptase PCR for detecting COVID-19. 3) Objectives are met through case studies and discussion of the genetic basis and clinical manifestations of single gene disorders, as well as the use of diagnostic techniques like PCR and antibody testing for genetic diseases.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Flag for inappropriate content
    of 5

    Objectives: At the end of the module, the student should be able to:

    1). Discuss how genes affect human diseases.


    2). Discuss the transmission pattern of Mendelian disorders.
    3). Explain the pathophysiology (biochemical and molecular basis) of the
    common clinical manifestations of single-gene disorders.
    4). Discuss the genetic defects and clinical manifestation of Marfan
    syndrome and Ehler-Danlos syndrome.
    5). Discuss the genetic basis of Familial Hypercholesterolemia.
    6). Discuss common genetic disorders associated with enzyme defects.
    7). Discuss complex multigenic disorders.
    8). Discuss common chromosomal disorders:
    a. cytogenetic disorders involving autosomes, e.g. trisomies
    b. cytogenetic disorders involving sex chromosomes
    9). Discuss Single-Gene disorders with nonclassic inheritance:
    a. trinucleotide repeat mutations.
    b. Mutations in mitochondrial genes
    c. Genomic imprinting
    d. Gonadal mosaicism
    10). Enumerate the more common diagnostic methods in genetic
    diseases.

    Laboratory Activities:

    Case 1. Hammad Al Salman is an Egyptian suffering from Sickle-cell


    disease. When he climbs mountains to herd his goats, he often
    experiences joint and muscle pains.

    A. Explain the symptoms experience by Hammad.


    B. By schematic representation, illustrate the genetic basis of his
    condition.

    Case 2. Maria and Pedro have a son name Ernesto, who easily bleeds.
    Both Maria and Pedro do not show the clinical manifestation of
    their son. A review of family history disclose that the father of
    Maria also shows spontaneous bleeding and easy bruising.
    Laboratory examination showed that Ernesto has low levels of
    Factor VIII.
    A. Show the genetic inheritance of this condition, using simple
    illustration.
    B. What are the chances that the sons of Ernesto will also show this
    condition?

    How about his daughters?

    His grandchildren?

    C. Is it possible for a female to manifest this disease?

    If yes or no, explain.


    Case 3. Elizabeth a 45-year-old, elderly primigravida delivered a live
    baby boy. The boy showed low set ears, simian crease on both
    palms. The child also showed ventricular septal defect on his
    heart.
    A. Illustrate and discuss briefly Robertsonian translocation in Down
    syndrome.

    B. Enumerate other clinical manifestations of Down syndrome.


    Case 4. Edilberto a 24-year-old engineering student suddenly develops
    dry cough, coryza and high-grade fever. He took paracetamol
    which afforded relief of fever, but 2 days later he develops
    progressive difficulty of breathing which necessitated
    hospitalization. A nasal swab was done and Reverse
    Transcriptase Polymerase Chain Reaction test was done to
    determine for the COVID-19 virus.
    A. Enumerate and discuss briefly the steps of a normal polymerase
    chain reaction.

    B. Why is a reverse transcriptase needed for the detection of SARS-CoV-


    2?

    C. Comment on the use of Rapid Antibody test for Covid-19.

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