HLTH101 Study Guide - Glucose-6-Phosphate Dehydrogenase Deficiency, Chemokine Receptor, Hemolytic Anemia

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31 Jul 2012
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Some people were at high risk of aids (i. e. prostitutes), but did not get infected - this did not make sense. Discovered that those individuals were homozygous for ccr5 (chemokine receptor 5) Chemokine receptor 5 (if they were homozygous for this they seemed to remain unaffected). Also found people who were positive for 10 years or more with no disease progression (had minor symptoms but did develop bull-blown aids): concluded that they were heterozygous for this mutation. There are several alleles for this receptor (ccr5). Receptor that allows aids into cell is cd4 receptor (receptor protein in t-cells): receptor that seems to be responsible for transporting hiv into the cell. Ccr5 also has to act for the cd4 receptor to work properly (they must work together). T- cell will remain uninfected if the ccr5 receptor isn"t working. If homozygous prevents development of aids/ heterozygous delays development of symptoms. For recessive traits, must be homozygous to have the disease.

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