bthalassemiacasestudy

bthalassemiacasestudy - Shweta Patro Handout 2 1....

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Shweta Patro Handout 2 1. Tazswana’s mother and grandfather carry an allele encoding for a defective beta globin (because of amino acid substitution). Taszwana’s father carries the allele for a faulty beta globin that is incorrectly spliced. Taszwana’s grandmother carries the allele for a large deletion that prevents the beta globin from even being expressed. 2. The grandfather and the mother are both heterozygous and have one wild type allele and one beta globin amino acid substitution allele. The father is heterozygous with one wild type allele and one beta globin splicing defect allele. The grandmother is heterozygous and has one wild type allele and one allele that fails to express beta globin. Taszwana is a compound heterozygote: she has the beta globin splicing defect allele and the beta globin amino acid substitution allele. 3. Taszwana is the only member of her family with the disease because she has two faulty beta globin alleles. Because she has inherited to defective copies of the gene from her parents, her blood cells cannot produce hemoglobin properly. Her parents and grandparents are carriers for the defective beta globin, but their normal wild-type allele can produce adequate beta globin. Her brother and sister carry two normal copies of the gene, and so will not get thalassemia. 4. The non-coding intron region of the mRNA is not supposed to leave the nucleus. It should be spliced out so that the exons can join together and be translated. However, if there is a defect in the intron, the spliceosome might mistake it for an exon and fail to cut it out. Handout 4 1. 2. Beta globin is a component of hemoglobin, the molecule that carries oxygen to the cells of the body. Normally, hemoglobin is present in adequate amounts in red blood cells, which are round, 7 micrometer, circular cells. Many of Tazswana’s cells are irregularly shaped, and if they stay in her blood, they could
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This note was uploaded on 01/18/2012 for the course ECON 101 taught by Professor Sei during the Spring '11 term at American Academy of Art.

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bthalassemiacasestudy - Shweta Patro Handout 2 1....

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