Texts: The fact that hundreds of genes have been identified as causes of intellectual disability (ID) suggests that __________. Question options: a) the ID phenotype is indicative of chromatin remodeling b) no one single mechanism is the exclusive cause of ID c) the ID phenotype evolves from defects in the synaptic vesicle or in the cells responsible for its formation d) the ID phenotype evolves from protein abnormalities associated with signaling molecules in the RhoGTPase pathway In what ways can corporate initiatives contribute to public health genetics and genomics (PHGG)? Select all that apply. Question options: a) by implementing routine preemptive pharmacogenetic testing b) by contributing data to relevant outside studies c) by offering private genetic tests to specific populations d) by using genetic data in the service of drug development e) by analyzing ancestry and consanguineous marriage in founder populations f) by launching community-based initiatives
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In this chapter, we focused on chromosomal mutations resulting from a change in number or arrangement of chromosomes. In our discussions, we found many opportunities to consider the methods and reasoning by which much of this information was acquired. From the explanations given in the chapter, what answers would you propose to the following fundamental questions? (a) How do we know that the extra chromosome causing Down syndrome is usually maternal in origin? (b) How do we know that human aneuploidy for each of the 22 autosomes occurs at conception, even though most often human aneuploids do not survive embryonic or fetal development and thus are never observed at birth? (c) How do we know that specific mutant phenotypes are due to changes in chromosome number or structure? (d) How do we know that the mutant Bar-eye phenotype in Drosophila is due to a duplicated gene region rather than to a change in the nucleotide sequence of a gene?
3. Which statement about the human genome is false? A. It contains approximately 20,000 genes. B. It contains long stretches of repeated sequences with no known direct function. C. It was sequenced by scientists from around the world as part of an international project. 10. A pea plant homozygous for the trait of smooth seeds is crossed with a pea plant that is homozygous for the trait of wrinkled seeds. The first generation produces seeds that are all smooth. What will the ratio of smooth seeds to wrinkled seeds be in the second-generation plants when the F1 generation is self-fertilized? A. 4:0 B. 3:1 C. 2:2 21. Which of the following bases are correctly paired together according to Chargaff’s rule? A. A = T B. T = A C. G = C 23. Snapdragons are heterozygous for color. A red snapdragon is crossed with a white snapdragon. The offspring all have pink flowers. This is an example of A. incomplete dominance. B. codominance. C. multiple alleles.
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• A genetic researcher is studying a human chromosome that contains the following order of genes: DEFGHI. A patient comes into the clinic and an analysis of this chromosome in the patient's cells reveals the following pattern of genes: DEFNGHL. The patient's chromosome has undergone (A) a duplication, (C) a transposon (or translocation), (B) a deletion, (D) an inversion. • A genetic researcher is studying a human chromosome that contains the following order of genes: DEFGHL. A patient comes into the clinic and an analysis of this chromosome in the patient's cells reveals the following pattern of genes: DEFGIH. The patient's chromosome has undergone (A) a duplication, (C) a transposon (or translocation), (B) a deletion, (D) an inversion.
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