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ha W the oth Pa

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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You and your team attempt to isolate the gene coding for the defective enzyme. The gene sequence is shown in the table below; the number at the end of the row is the numerical position of the last base in that row, so the 60th position has a “G”.

You compare the sequence of the gene from your patient with three other patients you have had with the same symptoms; the mutations for each patient in the table below. What is the amino acid change in the enzyme from your patient (you’ll need to refer to the genetic code)? What amino acid changes are associated with the enzymes from the other three patients? Explain how each of these amino acid changes would lead to non-functional enzymes.

Patient Base pair location Mutation
Justin 319 C ---> A
Patient A 374 G ---> A
Patient B 1004 G ---> C
Patient C 1144 C ---> T
Next, you and your team attempt to isolate the gene coding for the defective enzyme. The gene sequence is shown in the table below; the number at the end of the row is the numerical position of the last base in that row, so the 60th position has a "G”. ATGACCCAGA TTGGGCGCCT CCAGGCCCCT CCCTCAAGTA CGCCTCCAGA GTGTTCCATC CCCTAGGCTA CCGAGAGTAC CACTCAGCAC CTACGCCCAG CTTTCTGGCC GAACTTTTCT TGCAGGTGCA GGGCGCCGCG CACTTCGGGC CGTGGCTGCC CCTGCACTCG CTACACGAGC GGGACAGTGC GCACCGTGTA GAGGGACCOC GGCCOGAGEG CTGCAGCTTC TCGCCCTGGA TGGCTGCGCC TTTGCATTTG GGACAGCCCG GAGTTGCCTG CAGCGGGCTT GCGGACTGCT CACTGCTGAA GGCGAAGAAT CTGGCCCCGC TCCTCCTCCG GCCTCAAGCG GCCGCCCGCT GTAGTCTGCG ACCTTGTGCG GCGTCTGAGG CGCCAGCGGG GCCCTGGTTC GGGACGTGGC GGGGGAATTT TACAAGTTCG GTTCTGCTCG GCTCGCGCTT GGGCTGCCTG GAGGCTCAAG TTCATCCGCG CTGTGGGCTC GGTGTTTGTG TCCACGCTGT ACCTTGTGCC TGGGCCCTGG GGCCGCCTCT CTCAGAGGCA CGTGGAGCGG CGAGAGGCAG AGAAGGACCT GGAGTCTGGG GCGCACCTGA CCCAGTCCAT CCTGGGAAAT GTGACAGAGT ACACGCTCTC TTGGGCTCTG TATGAGCTCT ACTCAGAGAT CACAGCTGCC CTGAGCCCTG TGTCCCAGCT GCCCCTGCTG AAGGCGGTGG TACCTGGAAA TTCTCGTGTC CCAGACAAAG AAAATACGCT GGTCACTCTG TGTCACTATG AGCCAAATTC TTTTCGTCCA GCTCGCTGGC CATCTCTTCC CTTTGGCTTT GGCAAGCGCA AATTGCAAAT GGCTTTGGCC CAGATCCTAA CGGCCCCAGT TAGACCCAAG ACCCGGACTG AGTTTTTGGA CAGATAG ACGGTGTCCA ACAGCACTCC GCCACTGTTC TACCCTGTGG ATTATCCCCA CAGTTCCCAG CACCCATTTG GCAGAGCTTG GAGCCAGGTG ATCAACCTAC Patient Justin Patient A Patient B Patient C Base pair location 319 374 1004 1144 GCGTCCGCTG GGCGCCCGAG GCCGGAGCTT GGCAGACATC GCAAGGGGGG GCTGTCGAGG CGGTGTGGCT AGCCAGCTTT TCGAGGAGCT GCTGCGACAG CGGAGCACCG CCGCTGCCGC GGCAAAGGCT CCGCAGTCTC ACGCCGGAAC CCTGAACAAC GACGTGGCAC GGGGCC GCCC GACTGGAAGG CATCGCCGCG TGCCACCCGA CACGGAGACC TGACCATGGC GATGCCCCAC GCCGAGACTG GGACCAGATG AGGCAGCCAT GAGGAACGGA CCCACTTCCT GTTCCGGGAA TGCTATTGGC GGGAGTGGAC COCGGCACCC CGAAGTCCAG GCTCCAGTGC CTACCCCTCA TCAAGGAAGT GCTAAGACTG ACATTCATGT GGGTGACTAT CCACTTCAAG GGACCCTGCC TGGGGGAGGG TCCCACCCCC GCTGTATGGG GAGACGCCTG CACATTTTGA GGTGCAGCCT TCCTGGTACC TGAAAGGAGC 2. You compare the sequence of the gene from your patient with three other patients you have had with the same symptoms; the mutations for each patient in the table below. What is the amino acid change in the enzyme from your patient (you'll need to refer to the genetic code)? What amino acid changes are associated with the enzymes from the other three patients? Mutation C → A G→ A G → C C → T 60 120 180 240 300 360 420 480 540 600 660 720 780 840 900 960 1020 1080 1140 1200 1260 1320 1380 1440 1500 1527
Transcribed Image Text:Next, you and your team attempt to isolate the gene coding for the defective enzyme. The gene sequence is shown in the table below; the number at the end of the row is the numerical position of the last base in that row, so the 60th position has a "G”. ATGACCCAGA TTGGGCGCCT CCAGGCCCCT CCCTCAAGTA CGCCTCCAGA GTGTTCCATC CCCTAGGCTA CCGAGAGTAC CACTCAGCAC CTACGCCCAG CTTTCTGGCC GAACTTTTCT TGCAGGTGCA GGGCGCCGCG CACTTCGGGC CGTGGCTGCC CCTGCACTCG CTACACGAGC GGGACAGTGC GCACCGTGTA GAGGGACCOC GGCCOGAGEG CTGCAGCTTC TCGCCCTGGA TGGCTGCGCC TTTGCATTTG GGACAGCCCG GAGTTGCCTG CAGCGGGCTT GCGGACTGCT CACTGCTGAA GGCGAAGAAT CTGGCCCCGC TCCTCCTCCG GCCTCAAGCG GCCGCCCGCT GTAGTCTGCG ACCTTGTGCG GCGTCTGAGG CGCCAGCGGG GCCCTGGTTC GGGACGTGGC GGGGGAATTT TACAAGTTCG GTTCTGCTCG GCTCGCGCTT GGGCTGCCTG GAGGCTCAAG TTCATCCGCG CTGTGGGCTC GGTGTTTGTG TCCACGCTGT ACCTTGTGCC TGGGCCCTGG GGCCGCCTCT CTCAGAGGCA CGTGGAGCGG CGAGAGGCAG AGAAGGACCT GGAGTCTGGG GCGCACCTGA CCCAGTCCAT CCTGGGAAAT GTGACAGAGT ACACGCTCTC TTGGGCTCTG TATGAGCTCT ACTCAGAGAT CACAGCTGCC CTGAGCCCTG TGTCCCAGCT GCCCCTGCTG AAGGCGGTGG TACCTGGAAA TTCTCGTGTC CCAGACAAAG AAAATACGCT GGTCACTCTG TGTCACTATG AGCCAAATTC TTTTCGTCCA GCTCGCTGGC CATCTCTTCC CTTTGGCTTT GGCAAGCGCA AATTGCAAAT GGCTTTGGCC CAGATCCTAA CGGCCCCAGT TAGACCCAAG ACCCGGACTG AGTTTTTGGA CAGATAG ACGGTGTCCA ACAGCACTCC GCCACTGTTC TACCCTGTGG ATTATCCCCA CAGTTCCCAG CACCCATTTG GCAGAGCTTG GAGCCAGGTG ATCAACCTAC Patient Justin Patient A Patient B Patient C Base pair location 319 374 1004 1144 GCGTCCGCTG GGCGCCCGAG GCCGGAGCTT GGCAGACATC GCAAGGGGGG GCTGTCGAGG CGGTGTGGCT AGCCAGCTTT TCGAGGAGCT GCTGCGACAG CGGAGCACCG CCGCTGCCGC GGCAAAGGCT CCGCAGTCTC ACGCCGGAAC CCTGAACAAC GACGTGGCAC GGGGCC GCCC GACTGGAAGG CATCGCCGCG TGCCACCCGA CACGGAGACC TGACCATGGC GATGCCCCAC GCCGAGACTG GGACCAGATG AGGCAGCCAT GAGGAACGGA CCCACTTCCT GTTCCGGGAA TGCTATTGGC GGGAGTGGAC COCGGCACCC CGAAGTCCAG GCTCCAGTGC CTACCCCTCA TCAAGGAAGT GCTAAGACTG ACATTCATGT GGGTGACTAT CCACTTCAAG GGACCCTGCC TGGGGGAGGG TCCCACCCCC GCTGTATGGG GAGACGCCTG CACATTTTGA GGTGCAGCCT TCCTGGTACC TGAAAGGAGC 2. You compare the sequence of the gene from your patient with three other patients you have had with the same symptoms; the mutations for each patient in the table below. What is the amino acid change in the enzyme from your patient (you'll need to refer to the genetic code)? What amino acid changes are associated with the enzymes from the other three patients? Mutation C → A G→ A G → C C → T 60 120 180 240 300 360 420 480 540 600 660 720 780 840 900 960 1020 1080 1140 1200 1260 1320 1380 1440 1500 1527
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