HUMAN HEREDITY (LL)-W/MINDTAP ACCESS
11th Edition
ISBN: 9781305717022
Author: Cummings
Publisher: CENGAGE L
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Chapter 19, Problem 18QP
Summary Introduction
To determine: The founder principle in case of Ashkenazi Jewish Women infected by BRCA1 gene.
Introduction: The concept of founder effect was initially given by Ernst Mayr in the year 1942. The BRCA1 gene is a gene that is responsible for causing breast cancer in women.
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Comparisons between human and chimpanzee genomes indicate that a gene that may function as a wild-type or normal gene in one primate may function as a disease-causing gene in another [The Chimpanzee Sequencing and Analysis Consortium (2005). Nature 437:69–87]. For instance, the PPARG locus (regulator of adipocyte differentiation) is a wild-type allele in chimps but is clearly associated with Type 2 diabetes in humans. What factors might cause this apparent contradiction? Would you consider such apparent contradictions to be rare or common? What impact might such findings have on the use of comparative genomics to identify and design therapies for disease-causing genes in humans?
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Light skin
pigmentation
Cholera
Arsenic-rich
Cold
Elevation
Short
Lactose
tolerance
Marine
Malaria
diet
resistance
resistance environment
climate
stature
EVOLUTION 4e, Figure 6.28
2017 Sinauer Associates, Inc.
c) 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?
THE MOLECULAR GENETICS OF CYSTIC FIBROSIS and of
The following is the base sequence of DNA that codes for amino acids
506-510 of the protein that regulates the chlorine channels in the cell
membrane. This protein contains a total of 1476 amino acids so this is a
small part of the entire gene.
DNA Template Strand: 3'TAGTAGAAACCACAA5'
1. What is the minimum number of DNA nucleotides in this whole
gene?
2. What is the sequence of bases on the strand of DNA that is
complementary to the template strand?
3. What mRNA will be formed from the template strand of DNA?
4. What amino acids will this mRNA code for?
5. If the 6th, 7th and 8th bases in the template strand of the DNA are
removed, rewrite the new template strand below.
6. When the template strand of the DNA is changed, this is referred to
as a mutation. What kind of mutation is this?
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Chapter 19 Solutions
HUMAN HEREDITY (LL)-W/MINDTAP ACCESS
Ch. 19.8 - Why dont genetic markers on the Y chromosome...Ch. 19.8 - Prob. 2GRCh. 19 - If you suspected that heterozygous carriers of a...Ch. 19 - If allele frequencies in the hemoglobin gene are...Ch. 19 - Prob. 1QPCh. 19 - How Can We Measure Allele Frequencies in...Ch. 19 - How Can We Measure Allele Frequencies in...Ch. 19 - Prob. 4QPCh. 19 - Prob. 5QPCh. 19 - How Can We Measure Allele Frequencies in...
Ch. 19 - How Can We Measure Allele Frequencies in...Ch. 19 - How Can We Measure Allele Frequencies in...Ch. 19 - Using the HardyWeinberg Law in Human Genetics...Ch. 19 - Prob. 10QPCh. 19 - Using the HardyWeinberg Law in Human Genetics In a...Ch. 19 - Prob. 12QPCh. 19 - Measuring Genetic Diversity in Human Populations...Ch. 19 - Measuring Genetic Diversity in Human Populations...Ch. 19 - Prob. 15QPCh. 19 - Measuring Genetic Diversity in Human Populations...Ch. 19 - Prob. 17QPCh. 19 - Prob. 18QPCh. 19 - Measuring Genetic Diversity in Human Populations...Ch. 19 - Natural Selection Affects the Frequency of Genetic...Ch. 19 - Prob. 21QPCh. 19 - Prob. 22QPCh. 19 - The Evolutionary History and Spread of Our Species...Ch. 19 - Prob. 24QPCh. 19 - Genomics and Human Evolution The Denisovan genome...
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- Neanderthal Hair Color The MCIR gene regulates pigmentation in humans (Sections 14.1 and 15.l revisited), .so loss-of-function mutations in this gene affect hair and .skin color. A person with two mutated alleles for this gene makes more of the reddish melanin than the brownish melanin, resulting in red hair and pa le skin. DNA extracted from two Neanderthal fossils contains a mutated MC1R allele that has not yet been found in humans, To see how the. Neanderthal mutation affects the function of the MC1R gene, Carles Lalueza-Fox and her team introduced the allele into cultured monkey cells (FIGURE 26.1 6). FIGURE 26.16 MC1R activity in monkey cells transgenic for an unmutated MClR gene, the Neanderthal MC1R allele or the gene for green fluorescent protein (GFP). GFP is- not related to MC1R. 2. What does this imply about the mutations effect on Neanderthal hair color?arrow_forwardNeanderthal Hair Color The MCIR gene regulates pigmentation in humans (Sections 14.1 and 15.l revisited), .so loss-of-function mutations in this gene affect hair and .skin color. A person with two mutated alleles for this gene makes more of the reddish melanin than the brownish melanin, resulting in red hair and pa le skin. DNA extracted from two Neanderthal fossils contains a mutated MC1R allele that has not yet been found in humans, To see how the. Neanderthal mutation affects the function of the MC1R gene, Carles Lalueza-Fox and her team introduced the allele into cultured monkey cells (FIGURE 26.1 6). FIGURE 26.16 MC1R activity in monkey cells transgenic for an unmutated MClR gene, the Neanderthal MC1R allele or the gene for green fluorescent protein (GFP). GFP is- not related to MC1R. What purpose do the cells with the gene for green fluorescent protein serve in this experiment?arrow_forwardNeanderthal Hair Color The MC1R gene regulates pigmentation in humans (Sections 14.1 and 15.1 revisited), so loss-of-function mutations in this gene affect hair and skin color. A person with two mutated alleles for this gene makes more of the reddish melanin than the brownish melanin, resulting in red hair and pale skin. DNA extracted from two Neanderthal fossils contains a mutated MC1R allele that has not yet been found in humans. To see how the Neanderthal mutation affects the function of the MC1R gene. Carles Lalueza-Fox and her team introduced the allele into cultured monkey cells (FIGURE 26.16). FIGURE 26.16 MC1R activity in monkey cells transgenic for an unmutated MC1R gene, the Neanderthal MC1R allele, or the gene for green fluorescent protein (GFP). GFP is not related to MC1R. 1. How did MCR1 activity in monkey cells with the mutant allele differ from that in cells with the normal allele?arrow_forward
- Which statements are true? Explain why or why not.1 Each member of the human hemoglobin genefamily, which consists of seven genes arranged in two clus-ters on different chromosomes, is an ortholog to all of theother members.2 Horizontal gene transfer is more prevalent in sin-gle-celled organisms than in multicellular organisms.3 Most of the DNA sequences in a bacterial genomecode for proteins, whereas most of the DNA sequences inthe human genome do not.arrow_forwardThe 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?arrow_forwardA survey was conducted in 500 Filipinos belonging to the very low to low income generating families with at most a high school diploma. The study found out that 95% of the participants believed that consuming GMOs lead to unwanted mutations. Among the most common fear listed was the development of unwanted phenotypes for their children and grandchildren because of eating GM crops. Based on your accumulated knowledge in genetics and on how GMOs are produced, explain why the claim is impossible to happen. Use one specific example of GMO to justify your answers.arrow_forward
- The disease called phenylketonuria (PKU) is a recessive disorder in humans that is due to a loss-of-function mutation involving the gene that encodesphenylalanine hydroxylase. Some people with the disorder carrya point mutation that causes the loss of function, whereas otherindividuals have been shown to have a deletion of the entire gene. Explainhow you could use fluorescence in situ hybridization to distinguish apoint mutation from a deletion. Describe your expected results.arrow_forwardComparing DNA sequences in different species indicates that more DNA segments that do not code for protein have been conserved (unchanged) than protein- coding regions. These non-protein-coding regions areinterpreted as gene regulatory elements. Suggest why gene regulatory elements have not undergone many changes during the course of evolution.arrow_forwardWhat phenotypes do you think a homozygous tra1hsn animal with a loss of function Egl-1 mutation would have.arrow_forward
- Unanswered As a hobby you propagate a population of worms. You notice that one worm is now clear instead of being tan. You trace down the mutation and discover that it is a single basepair deletion in a pigmentation gene. Explain how a single basepair deletion could result in a drastic mutant phenotype. Your answer Write your response here... ion onarrow_forwardWhat type of mutation is this? 1. Which type of mutation is responsible for new varia tions of a trait? Which type of mutation does not result in an abnormal amino acid sequece? Which type of mutation stops the translation of an mRNA molecule? 2. Sickle Cell Anemia Sickle cell anemia is the result of a type of mutation in the gene that codes for part of the hemoglobin molecule Hemoglobin carries oxygen in your red bloods cells. The mutation causes these red blood cells to become stife sickle-shaped when they release their oxygen. The sickled cells tend to get stuck in blood vessels, causing poin ond increased risk of stroke, blindness, damage to the heart & lungs, and other conditions. Analyze the DNA strands below to determine what amino acid is changed AND what type of mutation occurred Normal hemoglobin DNA A G TC Normal hemoglobin mRNA val• Hisolelo thr•proo Gll Normal hemoglobin AA sequence CA cGT AG A CTGAGG AC AC Sickle cell hemoglobin DNA Sickle cell hemoglobin mRNA Sickle cell…arrow_forwardEvidence [see P. G. Shiels, A. J. Kind, K. H. Campbell, et al. (1999),“Analysis of telomere lengths in cloned sheep,” Nature 399, 316–317] suggests that Dolly may have been genetically older than heractual age. As mammals age, the chromosomes in somatic cells tendto shorten from the telomeres. Therefore, older individuals haveshorter chromosomes in their somatic cells than do younger ones.When researchers analyzed the chromosomes in the somatic cells of Dolly when she was about 3 years old, the lengths of her chromosomeswere consistent with those of a sheep that was significantlyolder, say, 9–10 years old. (Note: As described in the chapter, thesheep that donated the somatic cell that produced Dolly was 6 yearsold, and her mammary cells had been grown in culture for severalcell doublings before one of the cells was fused with an oocyte.)A. Suggest an explanation why Dolly’s chromosomes seemedolder than they should have been.B. Let’s suppose that a female sheep (like Dolly), which…arrow_forward
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