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IB35ACS Study Guide

O mutations can result in variations we consider

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Unformatted text preview: id structure for the hemoglobin beta protein creates abnormal hemoglobin. Point mutation. glutamic acid (hydrophilic HbA) to valine (hydrophobic HbS) o Sickle cell anemia inherited: autosomal recessive, homozygous recessive are anemic, HbS recessive ● Dawn of Molecular Genetics- Linus Pauling and Sickle Cell ● Sickle cell is common in similar areas as malaria ● Malaria caused by 4 species of parasitic protozoa that infect human red blood cells, arose around 7000ya ● Sickle cell anemia- balanced polymorphism- ● ● ● ● ● o When homozygous for HbA- die of malaria o When heterozygous HbA/HbS- not die of malaria or sickle cell o Homozygous HbS- die of sickle cell o Both homozygous are selected against, heterozygote advantage Evidence for selection: Higher carrier frequencies in populations living in higher malarial risk areas o Protects against malaria: since sickle cells are destroyed as the blood circulates through spleen, the parasites are destroyed as well o Potassium leaks out of HbS cells, parasite needs high potassium levels to develop Many genetic protections against malaria Blood groups- A, B, AB, O o 30 blood groups recognized today: Rh+(child) and Rh- (mom) o blood made up of red blood cell, plasma, white blood cell, platelet Why...
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