Question 1 1pts Go to the OMIM website e and look up...

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Question 1 1pts Go to the OMIM website e and look up Rett Syndrome 312750 in the search bar. In the toolbar on the left. click on Population Genetics What is the frequency of Rett syndrome in girls in metropolitan Tokyo? 1/200 1/2,000 1/200,000 1/20,000 Question 2 1 pts The inheritance pattern displayed here is best described as o Y linked Mitochondrial Autosomal recessive (linked dominant Autosomal dominant linked recessive Question 3 1 pts Non-discrimination is best described by the principle of: Autonomy Justice Beneficence Non-maleficence Question 4 1 pts With respect to X-linked recessive disorders (select all that apply): Females can be affected if the mother is a carrier and the father exhibits the disorder Females are never affected Females can be affected if there is non-random X-inactivation of the normal X chromosome Females can be affected if they inherit one copy of the pathogenic allele (assume X-inactivation affects both x chromosomes randomly) Question 5 1 pts Signs of an ethical issue include (select all that apply): A concern that a person's rights are being violated A concern for fairness and justice When there are conflicting values, beliefs or goals Having conflicting obligations or responsibilities Question 6 pts Allowing individuals to make decisions for themselves is best described by the principle of: Autonomy Non-maleficence Beneficence Justice Question 7 1pts X-linked recessive disorders (select all that apply': Can be identified by an absence of male to male transmission Frequently have the father as a carrier Are manifested in males more often Are mosaic in females because of X-inactivation Question 8 1 pts Spinal muscular atrophy (SMA) is an excellent example of how understanding the effect of environment on the severity of disease can be exploited for novel therapy True False Question 9 1 pts Two people having the same mutation but different phenotypes is an example of: o Incomplete penetrance Autosomal dominance Klinked dominance o Variable expressivity Question 10 1 pts Gigi and Zayn are going to have baby. Gigi (the mother) is a carrier for an X-linked recessive disorder. Zayn (the father) is unaffected. The probability that they will have an affected daughter is: o 100 00 25 75 6 50 Question 11 1pts Major reasons why clinicians draw pedigrees is (select all that apply): To establish an inheritance pattern To help understand what is the possibility that future children will be affected To map the chromosomal locus of the mutation To identify the mechanism of mutation Question 12 1 pts Making decisions based on the best consequences for the most people is best described as: Principlism Utilitarianism Virtue theory Deontology Question 13 1 pts The proportion of genes first cousins have in common is o 1/16 1/8 1/4 Question 14 1 pts Engaging with ethics by following a held rule or belief is best described as: Expressively Pre-reflectively Reflectively Question 15 1 pts When drawing pedigrees, unknown sex is indicated by: A diamond shape A diamond with a dot in the middle circle square Question 16 1pts In cases of autosomal recessive inheritance (select all that apply) The disease tends to be more severe than with dominant disorders Parents are typically carriers Males manifest the disease more frequently The probability of two carriers having an affected child is 50% Question 17 1pts Nemaline myopathy is an example of disorder caused by mutations in a number of different genes that give rise to different phenotypes. This is an example of: Genetic heterogeneity alone Incomplete penetrance alone Incomplete penetrance and genetic heterogeneity Variable expressivity and genetic heterogeneity Variable expressivity and incomplete penetrance Variable expressivity alone Question 18 1pts Founder mutations (select all that apply): Are often present in genetically isolated populations Can explain some instances of true homozygotes arising Can explain the change in the gene pool when new migrants arrive Can explain why certain populations have an increase frequency of a particular disease Question 19 1pts Factors that can mediate variable expressivity and incomplete penetrance include (select all that apply): Exposure to environmental effects to which the individual has a predisposed sensitivity Mutations in different genes that cause the same disease Genetic changes at second site that act on the gene of interest Epigenetic altering of gene expression Different mutations of the same gene Question 20 1pts The proband is The person who has come to clinical attention The person in a family with the most severe symptoms of disease The youngest in a family with disease symptoms The oldest living person in family with disease symptoms

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2. 5. Autosomal dominant
3. Justice
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