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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The HbβS(sickle-cell) allele of the human β-globingene changes the sixth amino acid in the β-globinchain from glutamic acid to valine. In HbβC, the sixthamino acid in β-globin is changed from glutamic acidto lysine. What would be the order of these two mutations within the map of the β-globin gene?
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?
Gene A, which encodes alcohol dehydrogenase, is labeled with a red fluorophore in a FISH experiment with one chromosome of a homologous pair, with results shown below. Gene B is labeled in green and encodes Notch2NL, a gene which may help to explain brain size differences between humans and chimpanzees, and which with increased dosage, may lead to a condition referred to as macrocephaly (enlarged head circumference sometimes associated with learning disabilities). What can you infer about these two genes given the results seen below?
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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- The figure below shows RNA-Seq data (RED) for the D. melanogaster transformer (tra) gene obtained from both adult female and male fruit flies. The blue lines indicate the tra gene structure, with thicker lines indicating exons, and thin lines introns. The 5' end of the gene is on the left, and the 3' end of the gene is on the right. Based on these data, the most likely conclusion is: Males and females express identical isoforms of tra Males express more tra RNA than females The female isoform has fewer amino acids The female isoform has more amino acids The male and female isoforms have different 3'UTRsarrow_forwardThe gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above and click, 'show transcript table', to answer the following question: What is the size in amino acid residues of the IGLL1 transcript named IGLL1-203? NOTE: Please give your answer as a number, not a word, and do not type the units.arrow_forwardThe gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above and click 'show transcript table' to answer the following question: What is the NCBI accession number (including the version) of the RefSeq Match for the transcript IGLL1-202? ANSWER: The NCBI accession number (including the version) of the RefSeq Match for the transcript IGLL1-202 is "Blank 1".arrow_forward
- The gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above to answer the following question: According to the web site above, how many phenotypes is IGLL1 associated with? ANSWER: IGLL1 is associated with Blank ... phenotypes.arrow_forwardThe gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above to answer the following question: Using the left-hand menu to view the sequence for IGLL1, what are the last 12 nucleic acid bases of exon 1?arrow_forwardProteins A,B,C, and D in the diagram are encoded by different genes and interact with each other. Imagine that a mutation in the gene for protein A changes one of the charged amino acid in the red circle area from positive to negative charge (blue arrow). this mutation results in a mutant phenotype. Assume a mutation in the gene for protein B occurs and the double mutants have a phenotype that is almost wild type. How would you best describe the mutation in gene B? Protein C Proten A Protein B Protein B Wild type Mutation in the gene for protein Aarrow_forward
- The gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above and click, 'show transcript table', to answer the following question: What is the size in base pairs of the IGLL1 transcript named IGLL-202?arrow_forwardWhen comparing evolutionary similarities between different genes within a gene family, it is usually more straightforward to compare genes by using the protein sequences of gene products rather than DNA sequences of the genes themselves. Explain why this is the case. (Write 5 points)arrow_forwardIn 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?arrow_forward
- 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.arrow_forwardImagine that Species A and Species B are closely related species. Species A has one hemoglobin gene, located on chromosome 5. Species B has two hemoglobin genes, one located on chromosome 5 and one located on chromosome 8. Based solely on this information, it is possible that the ancestor of Species A and Species B had one hemoglobin gene, and that a large-segment duplication followed by a translocation resulted in the second hemoglobin gene of Species B. True Falsearrow_forwardWhen comparing evolutionary similarities between different genes within a gene family, it is usually more straightforward to compare genes by using the protein sequences of gene products rather than DNA sequences of the genes themselves. Explain why this is the case. (Include 4 succinct points at least)arrow_forward
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