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- The cystic fibrosis gene encodes a chloride channel protein necessary for normal cellular functions. Let us assume that if at least 5% normal channels are present, the affected individual has mild symptoms of cystic fibrosis. Having less than 5% normal channels produces severe symptoms. At least 50% of the channels must be expressed for the individual to be phenotypically normal. This gene has various mutant recessive alleles: Predict the percent of functional channels and severity of symptoms for the following genotypes: a. heterozygous for CF100 b. homozygous for CF100 c. heterozygous, with one copy of CF100 and one of CF3 d. heterozygous, with one copy of CF1 and one copy of CF3If an extra nucleotide is inserted in the first exon of the beta globin gene, what effect will it have on the amino acid sequence of the globin polypeptides? Will the globin most likely be fully functional, partly functional, or nonfunctional? Why?One unexpected result of the sequencing of the human genome was the finding that mutations in a single gene can be responsible for multiple distinct disorders. For example, mutations in the RET gene can cause two different types of multiple endocrine neoplasias, familial medullary thyroid carcinoma, and Hirschsprung disease. How do you think mutations in a single gene can have such diverse effects?
- Zoe has cystic fibrosis. Which of the following is the most likely explanation? Zoe probably inherited one faulty allele from her father, who is a earner, and one normal allele from her mother. Zoe probably inherited one faulty allele from her mother, who must also have cystic fibrosis, and one normal allele from her father. Zoe must have inherited faulty alleles from both parents, both of whom must also have cystic fibrosis, Zoe must have inherited faulty alleles from both parents, both of whom are earners.A set of cells that host various DNA fragments collectively representing an organisms entire set of genetic information is called a _______ . a. genome c. genomic library b. clone d. GMOAlthough it is well known that X-rays cause mutations, they are routinely used to diagnose medical problems, including potential tumors, broken bones, and dental cavities. Why is this done? What precautions need to be taken?
- Animal Models: The Search for Behavior Genes You are a researcher studying an autosomal dominant neurodegenerative disorder. You have cloned the gene underlying the disorder and have found that it encodes an enzyme that is overexpressed in the neurons of individuals who have the disorder. To better understand how this enzyme causes neurodegeneration in humans, you make a strain of transgenic Drosophila whose nerve cells overexpress the enzyme. a. How might you use these transgenic flies to try to gain insight into the disease or identify drugs that might be useful in the treatment of the disease? b. Can you think of any potential limitations of this approach?Cell differentiation occurs through _______________, whereas morphogenesis involves _______________. (a) pattern formation; cell determination (b) cell division; cell expansion (c) cell expansion; pattern formation (d) cell determination; cell division (e) cell determination; pattern formationWhen the human genome sequence was finally completed, scientists were surprised to discover that the genome contains far fewer genes than expected. How many genes are present in the human genome? Scientists have also found that there are many more different kinds of proteins in human cells than there are different genes in the genome. How can this be explained?
- In Section 12-1, Julie is concerned that she may develop breast cancer, but testing shows that she does not carry the rare high-risk BRCA1 and BRCA2 alleles. What if further testing showed that some of her aunts, her mother, and she carried a common low-risk allele for breast cancer. What would you recommend to Julie if you were her genetic counselor?You may have heard about the diet that is based on a persons blood type and claims to restore the bodys natural genetic rhythms and improve health. Research may one day reveal exactly which foods might best turn on and off specific genes to defend against specific chronic diseases. No doubt marketers will rush to fill grocery shelves with foods manufactured to match genetic profiles. Why do you think these genetic approaches to diet and health might be more or less appealing than eating patterns that include a variety of fruits, vegetables, whole grains, milk products, and meats?Improving the nutritional value of food has long been one of the goals in agricultural genetics. Crossing different strains of plants and animals followed by generations of artificial selection have yielded some successes, including the development of high-protein maize. The use of gene transfer biotechnology has led to other advances, including the creation of nutritionally enhanced rice to combat vitamin A deficiency and blindness. Researchers are now turning their attention to the nutritional enhancement of animals that are used as food. Scientists are now turning their attention to using gene transfer technology to nutritionally enhance animal foods. Recently, biotechnology was used to produce a sheep with increased amounts of an omega-3 essential fatty acid that plays an important role in the development of the nervous system and, in adults, reduces the risk of coronary artery disease. Once a small number of transgenic animals have been produced, they can be bred by conventional methods to establish a source of nutritionally enhanced meat and milk. The use of biotechnology is presenting consumers with many new choices, which will become more common in the future. Increasingly, we will all have to educate ourselves about the pros and cons of such decisions. How would you explain your decision to eat nutritionally enhanced meat from animals modified by biotechnology?
