Genetics: From Genes To Genomes (6th International Edition)
Genetics: From Genes To Genomes (6th International Edition)
6th Edition
ISBN: 9781260041217
Author: Leland Hartwell Dr., ? Michael L. Goldberg Professor Dr., ? Janice Fischer, ? Leroy Hood Dr.
Publisher: Mcgraw-Hill
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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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Mutations in the HPRT1 gene in humans result in atleast two clinical syndromes. Consult OMIM (www.omim.org) by querying HPRT1; you will only needto look briefly at the top three hits (files #300322,300323, and 308000).a. What is the full name of the HPRT1 enzyme?b. On which chromosome is the HPRT1 gene located?c. Mutations in HPRT1 are associated with two different syndromes. What are these syndromes? Foreach, answer the following questions: (i) What arethe symptoms associated with the syndrome? (ii) Isthe mutant allele that causes the syndrome dominant, recessive, codominant, or incompletely dominant with respect to the normal allele, or do specialconditions apply? (iii) Is the syndrome associatedwith a loss-of-function or a gain-of-function disease allele? (iv) Does the syndrome display allelicheterogeneity? (v) Does the syndrome display locus heterogeneity? (Note: You do not need to understand everything in the OMIM entries to answerthese questions.)
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Using the GeneEx Computer Simulation http://intro.bio.umb.edu/MOOC/jsGX/JsGenex_C2.html Complete the following Question and upload a screenshot to this assignment with your unique gene shown. (Use the Snipping Tool to capture a screenshot- it is in the start button and search for snipping tool) Design an entirely new gene that you have invented. Using the new Gene Explorer, this gene should (you can make it more challenging if you like): Produce a protein of at least five amino acids (including the N-terminal Met). Contain at least one intron. Tips 1.Use the “Enter New DNA Sequence” button and delete the starting sequence from the entry blank. 2.Type in a promoter, a little DNA, and a terminator; be sure your RNA is made. 3.Click on your gene and add the start codon, coding region, and stop codon; be sure your protein is made. Type slowly so that the program can keep up. 4. Similarly, add an intron in the coding region and be sure your gene works

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Genetics: From Genes To Genomes (6th International Edition)

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