Asthma is a common medical condition that is influenced by genetics and environment. In the US, appraximately 9% of adultshave asthma. A recent genome wide association study (GWAS) identifieda genetic variation that increases asthma risk by S0%when a single copy of the risk variant is present in a genome. Which value below would represent the approximate asthma risk ofan individual with this genetic variation in their genome?Select an answer and submit. For keyboard navigation, use the up/down arrow keys to select an answer.a59%b50%14.5%9.5%e9%

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Answered: Asthma is a common medical condition…

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter19: Population Genetics And Human Evolution

Section19.8: Genomics And Human Evolution

Problem 2GR

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The use of nucleotide sequence data to measure genetic variability is complicated by the fact that the genes of higher eukaryotes are complex in organization and contain 5′ and 3′ flanking regions as well as introns. Researchers have compared the nucleotide sequence of two cloned alleles of the g-globin gene from a single individual and found a variation of 1 percent. Those differences include 13 substitutions of one nucleotide for another and 3 short DNA segments that have been inserted in one allele or deleted in the other. None of the changes takes place in the gene’s exons (coding regions). Why do you think this is so, and should it change our concept of genetic variation?
Recently, scientists have identified a mutation that is found at high frequency in Finnish populations, located in northern Europe where the winter is very cold. This mutation is believed to be a “cold sensitive” allele that warns people of extreme cold temperatures. Could this allele have undergone a “selective sweep”, if it had suddenly appeared in this northern population of humans? How would such a selective sweep be detected with genome data?
Consider the following estimates:(a) There are 7 x 109 humans living on this planet.(b) Each individual has about 20,000 (0.2 * 105) genes.(c) The average mutation rate at each locus is 10-5.How many spontaneous mutations are currently present inthe human population? Assuming that these mutations areequally distributed among all genes, how many new mutationshave arisen in each gene in the human population?
How might the Hardy Weinberg relationship be used to evaluate a new SNP genotyping technology using multiple individuals from a population? Group of answer choices a)If genotypes match the reference genome, the technology is sound. Otherwise, the technology may have problems accurately calling SNPs. b)If observed phenotypes follow Hardy Weinberg, the technology is sound. Otherwise, the technology may have problems accurately calling SNPs. c)If genotypes and allele frequencies follow Hardy Weinberg, the technology is sound. Otherwise, the technology may have problems accurately calling SNPs. d)None of the above
In a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus. Q. What characteristics of the pedigree rule out inheritance of a trait encoded by a gene in the mtDNA as the cause of this disorder?
In a study of a muscle disorder, several affected families exhibited vision problems, muscle weakness, and deafness (M. Zeviani et al. 1990. American Journal of Human Genetics 47:904–914). Analysis of the mtDNA from affected members of these families revealed that large numbers of their mtDNA molecules possessed deletions of varying lengths. Different members of the same family and even different mitochondria from the same person possessed deletions of different sizes, so the underlying defect appeared to be a tendency for the mtDNA of affected persons to have deletions. A pedigree of one of the families studied is shown below. The researchers concluded that this disorder is inherited as an autosomal dominant trait, and they mapped the diseasecausing gene to a position on chromosome 10 in the nucleus. Q. Explain how a mutation in a nuclear gene might lead to deletions in mtDNA.
Which parameters are important to include when designing a GWAS (genome-wide association study) to identify genes involved in Polycystic Kidney disease in individuals of Korean ancestry? Select all that apply. Group of answer choices a. Compare Korean individuals with the disease to unaffected Korean individuals b. Pursue SNPs only in exonic loci for further study c. Pursue SNPS only in genes related to kidney development for further study d. Set strong statistical thresholds to identify SNPs related to the disease state over the general variation observed in populations e. Compare Korean individuals with the disease to every available genome for a stronger statistical power.
The use of nucleotide sequence data to measure genetic variabilityis complicated by the fact that the genes of many eukaryotesare complex in organization and contain 5' and 3' flankingregions as well as introns. Researchers have compared thenucleotide sequence of two cloned alleles of the y-globin gene from asingle individual and found a variation of 1 percent. Those differencesinclude 13 substitutions of one nucleotide for anotherand three short DNA segments that have been inserted in oneallele or deleted in the other. None of the changes takes placein the gene’s exons (coding regions). Why do you think this isso, and should it change our concept of genetic variation?
Consider Mendelian traits versus polygenic traits. What impact do modifications, such as those offered by CRISPR and genetic testing, have on the generational lineage of these traits?Are some traits (e.g., susceptibility to Sickle Cell Anemia) worth removing from our genome? Support your position.
a) what feature of the genome is likely to be located between the two LD blocks that allows scientists to visualize them as seperate blocks? b) Even though the fugure analyzes nine different SNPs, genotyping just two of se SNPs would allow you to predict the genotype of almost everyone in the population. Explain why this limited genotyping has predictive value. c) When obtaining the data allowing construction of triangular diagrams, have researchers typically genotyped common SNPs or rare SNPs? Explain.
. Figure 18-14 presents haplotype data for the G6PD genein a worldwide sample of people.a. Draw a haplotype network for these haplotypes.Label the branches on which each SNP occurs.b. Which of the haplotypes has the most connectionsto other haplotypes?c. On what continents is this haplotype found?d. Counting the number of SNPs along the branchesof your network, how many differences are therebetween haplotypes 1 and 12?
Until very recently, the fitness of an individual getting familial retinoblastoma was zero, and if the frequency of babies with the inherited disease is 1/20000, what is the best estimate of the mutation rate of the wild type allele to the non-functional form?

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