reasons for disease diagnosis - Answers What's wrong with my child? What's wrong with me?
Can it happen the the next child?
reasons for disease prognosis - Answers Severity of the disease impacts treatments
hemoglobinopthaies - Answers disease of hemoglobin
why are hemoglobinopathies the most common and well known inherited diseases - Answers
heterozygote advantage, blood samples are easy to obtain, first to be isolated via recombinant
DNA
hemoglobin peptide structure - Answers 8 α helical regions, heme cofactor, HIS 92, Phe42.
consists of 2 α and 2 β type globins
where does HIS 92 bind? - Answers at the heme cofactor
how does heme get locked into binding pocket? - Answers Phe42
α type globin - Answers encoded on 16p. codes for ζ, α1, and α2.
β type globin - Answers encoded on 11p. codes for ε, Gγ, Aγ, δ, β
embryonic hemoglobin - Answers zeta 2 epsilon 2
fetal hemoglobin - Answers alpha 2 gamma 2
adult hemoglobin - Answers alpha 2 beta 2
how many introns and exons does each hemoglobin gene have - Answers 3 exons and 2 introns
locus control region (LCR) - Answers enhancer. located on 5' of the first β-type globin genes.
similar one located on α gene cluster
what happens when LCR is deleted - Answers no beta globin types get produced
sickle cell anemia (HbS) - Answers caused by a mutation in β (GAG-> GTG). HbS then creates
fibers that distort RBC shape and black capillaries. gain of function mutation
α thalassemia - Answers due to an uneven sister chromatid at 16p. causes lost of an α gene
β thalassemia - Answers caused by numerous mutations in β gene, causing adult hemoglobin to
not be expressed
primary protein structure - Answers amino acid sequence
secondary protein structure - Answers helix v β sheet v random coil