Genetic Analysis: An Integrated Approach (3rd Edition)
3rd Edition
ISBN: 9780134605173
Author: Mark F. Sanders, John L. Bowman
Publisher: PEARSON
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Chapter 16, Problem 23P
In the globin gene family shown in Figure
Figure 16.16
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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.
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?
Chapter 16 Solutions
Genetic Analysis: An Integrated Approach (3rd Edition)
Ch. 16 - You have discovered a new species of Archaea from...Ch. 16 - 16.2 Repetitive DNA poses problems for genome...Ch. 16 - 16.3 When the whole-genome shotgun sequence of the...Ch. 16 - How do cDNA sequences facilitate gene annotation?...Ch. 16 - 16.5 How do comparisons between genomes of related...Ch. 16 - 16.6 You are designing algorithms for the...Ch. 16 - 16.7 You have sequenced a region of the Bacillus...Ch. 16 - You have just obtained 100-kb of genomic sequence...Ch. 16 - 16.9 The human genome contains a large number of...Ch. 16 - Based on the tree of life in Figure 16.12, would...
Ch. 16 - 16.11 When comparing genes from two sequenced...Ch. 16 - 16.12 What is a reference genome? How can it be...Ch. 16 - Prob. 13PCh. 16 - Prob. 14PCh. 16 - 16.16 Consider the phylogenetic tree below with...Ch. 16 - You have isolated a gene that is important for the...Ch. 16 - 16.18 When the human genome is examined, the...Ch. 16 - Symbiodinium minutum is a dinoflagellate with a...Ch. 16 - Substantial fractions of the genomes of many...Ch. 16 - 16.21 A modification of the system, called the ...Ch. 16 - 16.22 A substantial fraction of almost every...Ch. 16 - 16.23 In the globin gene family shown in Figure ,...Ch. 16 - You are studying similarities and differences in...Ch. 16 - In conducting the study described in Problem 24,...Ch. 16 - Prob. 26PCh. 16 - Prob. 27PCh. 16 - Prob. 28PCh. 16 - Prob. 29P
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- In a study of a muscle disorder, several affected families exhibitedvision problems, muscle weakness, and deafness (M. Zeviani et al. 1990.American Journal of Human Genetics 47:904–914). Analysis of themtDNA from affected members of these families revealed that largenumbers of their mtDNA molecules possessed deletions of varyinglengths. Different members of the same family and even differentmitochondria from the same person possessed deletions of differentsizes, so the underlying defect appeared to be a tendency for the mtDNAof affected persons to have deletions. A pedigree of one of the familiesstudied is shown below. The researchers concluded that this disorder isinherited as an autosomal dominant trait, and they mapped the diseasecausinggene to a position on chromosome 10 in the nucleus.a. What characteristics of the pedigree rule out inheritance of a traitencoded by a gene in the mtDNA as the cause of this disorder?b. Explain how a mutation in a nuclear gene might lead to deletions…arrow_forwardGiven our knowledge of genome sizes in different organisms, would you predict that Homo sapiens or the two-toed salamander (Amphiuma means) has the larger genome?arrow_forwardBlue eye color allele (b) is recessive to the dominant to the black eye color allele (B). When we sequence around the locus of the blue gene from 10 pure breed species and 10 black pure breed species we notice difference in dna sequence. The black eye species have short tandem repeat (STR), which is a short DNA sequence that is repeated 6 times in the species with blue eyes, and 10 times in the species with black eyes. These repeats are only 4 cM apart from the orange gene locus. You design a PC test that distinguishes between the 6 and 10 STRs by electrophoresis. Make pedigree that will let us to identify which alleles of the blue gene was the dominant and or recessive?arrow_forward
- Match the numbered concepts to the lettered facts. Explain why each pair is the best match. (1) Gene Duplication (2) Molecular Clock (3) Pseudogene (4) SINES and LINES a. Different kinds of globin chains arose over time including myoglobin, alpha globin, beta globin 1, delta globin, and beta globin 2.b. The two human beta globin genes, 1 and 2, differ at 20 base pair sites; only beta gene 1 produces a functional protein.c. In human hemoglobin, the delta polypeptide chain differs by 39 amino acid sites vs. the beta chain.d. The human alpha globin gene and the mouse alpha globin gene are orthologous to each other.arrow_forward. 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?arrow_forwardWhat is the importance of Gregor Mendel’s Law of Inheritance in Molecular Biology?arrow_forward
- how can genomes with a relatively small number of genes produce the vast complexity of phenotypes that results in living organisms, including humans?arrow_forwardBased on the information (graph attached) , what genes do you think are likely shaped by positive selection? What do the results mean for our understanding of COVID-19?arrow_forwardDNA from a strain of Bacillus subtilis with the genotype trp+ tyr+ was used to transform a recipient strain with the genotype trp− tyr−. The following numbers of transformed cells were recovered: Genotype Number of transformed cells trp+ tyr− 154 trp− tyr+ 312 trp+ tyr+ 354 What do these results suggest about the linkage of the trp and tyr genes?arrow_forward
- If myoglobin is found in all chordates, urochordates, and cephalochordates, b-globin is found in all vertebrates, a-globin in all ostracoderm descendants, z-globin in all gnathostomes, e-globin in all viviparous mammals, and d-globin in all eutherian mammals, then the most recent globin gene must be: myoglobin, found only in descendants of the chordates, urochordates, and cephalochordates zeta-globin (z-globin), found only in descendants of the ancestral gnathostome fishes epsilon-globin (e-globin), found only in descendants of the ancestral marsupials beta-globin (b-globin), found only in descendants of the ancestral vertebrates delta-globin (g-globin), found only in descendants of the ancestral eutheriansarrow_forwardIf you had the ability to do gene editing with ONE gene for the betterment of human kind, which one would you choose, and why? Assume you could either change an abnormal allele associated with a disease, such as the cystin gene associated with Cystic Fibrosis to its normal wild type, or add a pre-existing human allele to a genome.arrow_forwardName the common and rare alleles found in the human population of the TAS2R38 gene.arrow_forward
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