HumanInheritance160-page3 - • The partial sickle effect...

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Human Inheritance Patterns - 3 Some Examples of Human Recessive Alleles that Cause Problems Cystic Fibrosis Affects a chloride ion channel membrane protein. Lack of the protein results in thickened excess mucus production, especially in lungs and pancreas. One recent experimental treatment involved gene therapy using genetically altered cold viruses that contain the normal gene. The viruses are sprayed into the nasal passages. When the virus invades the nasal mucus producing cells, the gene is incorporated into the cells and gets transcribed. The treatment is short-lived, however, since cells are replaced every few weeks. Sickle Cell Anemia Hemoglobin takes on a shape in low oxygen conditions that alters the shape of rbcs, causing clumping and rbc fractures that block blood flow. Treatment by periodic whole blood transfusions
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Unformatted text preview: • The partial sickle effect of heterozygotes does not negatively affect health, and confers some resistance to the malaria-causing protist. The correlation of sickle cell anemia and malaria is striking. • Tay-Sachs Disease • Inability to produce critical lipases, which results in accumulations of particular lipids in the brain. Tay-Sachs is fatal in early childhood. Carriers produce sufficient enzyme to not exhibit symptoms of Tay-Sachs. • Phenylketonuria • Inability to process the amino acid, phenylalanine • Protein intake must be critically monitored to prevent buildup of the amino acid to harmful concentrations. • Albinism • Inability to produce any melanin pigment • Treatment is to avoid sun and other bright light...
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This note was uploaded on 12/29/2011 for the course BIO 151 taught by Professor Edwards during the Spring '10 term at SUNY Stony Brook.

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