10 ? ? ? ? ? ? 6 12 18 24 30 36 Birth 6 12 18 24 30 36 42 Prenatal age (weeks) Postnatal age (weeks) These are the Greek letters used in the graph. Please write out their name as your answer to the questions below. ? = alpha, ? = beta, ? = epsilon, ? = zeta, ? = delta, ? = gamma People that have ?-thalassemia have a version of ?-globin that is not functional and cannot pair with ?-globin. Blank #1: Propose a version of the globin gene that can and does pair with ?-globin and could offer a treatment option for patients with ?-thalassemia if it were expressed. Phrase your answer as: greek letter written out ... no quotes, see example below ex. you would say, epsilon not ?
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Alpha thalassemia is a blood condition resulting from abnormal hemoglobin production, due to loss of function of copies of either HBA1 or HBA2 genes. These genes are very similar, and for simplicity's sake, we talk about having four copies of the HBA gene (two copies of each). HBA1 and HBA2 genes are located next to each other and therefore are described within the same allele. For example, αα indicates that both HBA1 and HBA2 copies on an allele are functioning, α- indicates an allele with one of the two genes functioning, and -- indicates an allele with neither gene functioning. There are multiple versions of alpha thalassemia, which depend on how many of the four HBA copies are functioning. This is outlined in the table below, in order of severity (most severe -> least severe): Phenotype Genotype α-thalassemia major Loss of all 4 α-globin genes Hemoglobin H (HbH) disease Loss of 3 α-globin genes α-thalassemia trait Loss of 2 α-globin genes in cis (--/αα) or trans (-α/-α) α-thalassemia silent carrier Loss of 1 α-globin gene (-α/αα) A man who is a silent carrier has a child with a woman who has α-thalassemia trait. a) Assuming the woman has mutations in cis, what are the possible offspring phenotypes for this child? Give the probability for each possible phenotype. b) Assuming the woman has mutations in trans, what are the possible offspring phenotypes for this child? Give the probability for each possible phenotype.
Adi S.
Certain individuals with mild forms of $\beta$ -thalassemia produce, in addition to normal adult hemoglobin with two $\alpha$ chains and two $\beta$ chains, lower levels of an unusual, so-called Lepore hemoglobin with two $\alpha$ chains and two chains in each of which the N-terminal half comes from a normal $\delta$ chain and the C-terminal half comes from a normal $\beta$ chain. Certain other individuals who are asymptomatic produce a different, unusual anti-Lepore hemoglobin that contains two $\alpha$ chains and two chains in which the N-terminal half comes from a normal $\beta$ chain and the C-terminal half comes from a normal $\delta$ chain. a. Describe an event that could give rise to both Lepore and anti-Lepore hemoglobins. b. Are the mildly thalassemic individuals with Lepore hemoglobin homozygotes or heterozygotes for the unusual allele? c. Why might these mildly thalassemic people produce less Lepore hemoglobin than normal adult hemoglobin?
In humans, thalassemia shows incomplete dominance; heterozygotes exhibit a mild form of the disease (thalassemia minor) and dominant homozygotes a much more severe form (thalassemia major). The inheritance of the ABO blood group system exhibits both complete dominance (Alleles A and B are dominant to the allele for O), and codominance between A and B alleles. Both members of a couple have thalassemia minor. The husband has type A blood and his mother was known to be O blood type. The wife has type AB blood. What is the probability that they will have the following offspring... (a) Child with no thalassemia and blood type A (b) Child with thalassemia minor and blood type B (c) Child with thalassemia major and blood type AB (d) A girl that has no thalassemia and blood type B (e) A boy that has thalassemia minor and blood type A (f) 4 kids: two girls; one who has thalassemia major and blood type A and one who is normal and blood type A, and two boys both who have thalassemia minor, but one is blood type A and one is blood type B (g) A girl who is normal and blood type B, followed by a boy who has thalassemia major and blood type AB and a last girl who is normal and blood type A
Bryan V.
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