Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN: 9780134580999
Author: Elaine N. Marieb, Katja N. Hoehn
Publisher: PEARSON
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Of all the genes in the human genome, the ones with
the most characterized Alu insertions are those that
cause hemophilia, including several insertions in the
factor VIII and factor IX genes. Based on this fact, your
colleague hypothesizes that the Alu element prefers to
insert into these genes. Do you agree? What other reason can you provide that also explains these data?
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- A 30 - year - old woman was undergoing therapy for b-thalassemia,a recessive trait caused by absence of or reduced synthesis ofthe hemoglobin b chain, a subunit of the oxygen-carrying moleculein red blood cells. In this condition, red blood cells are rapidlydestroyed, freeing a large amount of iron, which is deposited in tissuesand organs. The blood transfusions the patient had received every twoor three weeks since the age of 7 to stave off anemia were furtheraggravating iron buildup. Her major organs were showing damage, andshe was in danger of death from cardiac disease. Her physician suggestedthat she consider undergoing a hematopoietic (bone marrow)stem cell transplant (HSCT). Since these stem cells give rise to redblood cells, such a transplant could potentially restore her health. Whilethis might seem like an easy decision, it is not. Advanced cases havea high risk (almost 30 percent) for transplantation-related death. At thispoint, the woman is faced with a difficult and…arrow_forwardA researcher sequences the whole exome of a patientsuffering from Usher syndrome, a rare autosomal recessive condition that is nonetheless the leading causefor simultaneous deafness and blindness. The exomesequence does not show homozygosity for any polymorphisms different from the human RefSeq.a. How could the researcher examine the data alreadygathered to try to find the disease gene, assumingthe sequence is accurate?b. If the attempt described in part (a) was unsuccessful, the researcher might contemplate sequencingthe patient’s whole genome. What are the potentialpitfalls of this strategy?arrow_forwardGenes participating in informational processessuch as replication, transcription, and translation aretransferred between species much less often than aregenes involved in metabolism. The basis for this inequalityis unclear at present, but one suggestion is that it relatesto the underlying complexity of the two types of processes.Informational processes tend to involve large aggregatesof different gene products, whereas metabolic reactionsare usually catalyzed by enzymes composed of a singleprotein. Why would the complexity of the underlying pro-cess—informational or metabolic—have any effect on therate of horizontal gene transfer?arrow_forward
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