Genetics: From Genes to Genomes
Genetics: From Genes to Genomes
6th Edition
ISBN: 9781259700903
Author: Leland Hartwell Dr., Michael L. Goldberg Professor Dr., Janice Fischer, Leroy Hood Dr.
Publisher: McGraw-Hill Education
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Chapter 10, Problem 23P

On your computer’s browser, view the page accessed by the URL: http://genome.ucsc.edu/cgi-bin/hgGateway

In the Search Term box at the top, type CFTR (for the CFTR gene responsible for cystic fibrosis), then hit “GO.” You will be directed to a window showing the organization of the CFTR gene on human chromosome 7. (If a list appears instead of a picture, click on the first link at the top of the list, and you will be directed to the proper window.) At the top of this window are control buttons that allow you to move your view to the left or right, zoom in (even to the level of the nucleotide sequence), zoom out, or (on the second row) jump to a different chromosomal position. Below these buttons is a diagram, called an idiogram, of the chromosome you are viewing, with a region in red indicating the particular region of the chromosome you are looking at. (You can also click on the idiogram to move around.)

a. How many exons are in the CFTR gene?
b. Is the CFTR gene located on the short arm (the p arm) or the long arm (the q arm) of human chromosome 7?
c. In which direction is the CFTR gene transcribed: toward the centromere, or away from the centromere? Section 10.4 Now zoom out the view by 10×
d. What are the names of the genes that flank CFTR on either side? Are these genes transcribed from the same strand of chromosome 7 as CFTR, or from the other strand? Now zoom out 100× until the entirety of chromosome 7 is visible.
e. What is the approximate size of chromosome 7 in Mb?
f. What is the approximate location of the centromere on human chromosome 7?
g. What is the significance of the RefSeq genes’ appearing to pile up when you are viewing the whole chromosome?
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If 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.
Using a laser beam, you isolated several R bands from human chromosomes. Answer the following questions What kinds of genes are present in R bands? Which isochors do you expect to be present in the R band? What class of interspersed repeats will be present in R bands? What class of tandem repeats do you expect to find in RG bands? Would you expect to find telomere sequences in some R bands?
Below is a sample of a segment of DNA…(copy from left to right)   3’ TACAATGGGCGACGCGCTTCGTTTCAGATT 5’   5’ ATGTTACCCGCTGCGCGAAGCAAAGTCTAA 3’       1.Assume the 6th amino acid is changed from T to G on the DNA template strand.  What type of mutation is this?  What effect would this have on the protein? Look up an example for this type of mutation.    2, Assume the 5th and 6th amino acids are removed from the DNA template strand.  What type of mutation is this? How would this affect the protein?  Look up an example of this type of mutation.    3.Which mutation changes the protein more...a point mutation or a frameshift mutation.  Explain your reasoning.    4.What would be the problem if ATT was inserted into the DNA template strand after the second codon? (Be sure to consult the coding chart for amino acids).    5. What if the second amino acid was repeated over 5Ox. What amino acid is repeated? What type of mutation is this?  If this is on chromosome 4, what genetic disorder is this?…
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