Lecture6genetargetingHemophiliahumanchromosomes

At home or in sections summarize the differences

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At home or in sections: summarize the differences between knockout, knock-in, and conditional knockout Knockout Knock-in Conditional knockout Purpose Position of neoR (intron? exon?) Position of regions of homology Position of TK Position of loxP sites
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Hemophilia is an X-­૒linked recessive disorder characterized by the inability to properly form blood clots. Hemophilia in the European high society:
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Bleeding into so? @ssues, muscles, and weight-­૒bearing joints Severe case newborns: prolonged bleeding from umbilical wound Hematoma: swelling caused by internal bleeding
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Subcutaneous hematoma of the forehead in a young boy with hemophilia. The photograph was taken 4 days a?er a minor contusion. The appearance of the forehead returned to normal in 6 months.
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Symptoms: - frequent and large bruises and hematomas after minor bumps or falls - Minor injury can cause bleeding that lasts for days or weeks - Heavy bleeding after surgeries, dental procedures - Swelling and bleeding in joints, muscles Before 1960s: average life expectancy of only 11 years: Today: average life expectancy 10 years shorter than normal. Major causes of death: HIV/AIDS, intracranial hemorrhage, hepatatis infections Hemophilia: impaired blood clotting (coagulation)
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Both are deficient in the components of the clotting cascade Hemophilia A - deficiency of factor VIII Hemophilia B (Christmas disease) - deficiency of factor IX.
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