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Chapter 11: Problem 18

Online resources provide ready access to detailed information about the human genome. Go the National Center for Biotechnology Information (NCBI) genome database at http://www.ncbi.nlm.nih.gov/ Genomes/index.html and click on Homo sapiens in the Map Viewer genome annotation updates list to access the chromosome map and organization of the human genome. Next, go to http://www.ncbi .nlm.nih.gov/genome/. In the "Search For" box, type in the following diseases to discover the chromosomal location of the affected gene and, by exploring links highlighted by the search results, discover the name of the protein affected by the disease: a. Sickle cell anemia b. Tay Sachs disease c. Leprechaunism d. Hartnup disorder

Short Answer

Expert verified
The exercise requires using the given online resource and search tool to find the chromosomal location of the genes affected by Sickle cell anemia, Tay Sachs disease, Leprechaunism, and Hartnup disorder in the human genome, along with identifying the name of the proteins affected by these diseases. The exact results will vary based on the current data in the NCBI database when the search is performed.

Step by step solution

01

Open the Genome database

Go to the National Center for Biotechnology Information (NCBI) genome database at http://www.ncbi.nlm.nih.gov/Genomes/index.html and click on Homo sapiens in the Map Viewer genome annotation updates list. This will take you to the human genome map.
02

Search for Sickle cell anemia

Now, go to http://www.ncbi.nlm.nih.gov/genome/. In the 'Search For' box, type 'Sickle cell anemia'. The name of the protein affected by this disease and the location of the affected gene on the chromosome will be highlighted in the search results.
03

Search for Tay Sachs disease

In the 'Search For' box, now type 'Tay Sachs disease'. The search results will highlight the name of the protein affected by this disease and the chromosomal location of the affected gene.
04

Search for Leprechaunism

Next, in the 'Search For' box, type 'Leprechaunism'. The search results will provide information on the name of the protein affected by this disease and the chromosomal location of the affected gene.
05

Search for Hartnup disorder

Finally, type 'Hartnup disorder' in the 'Search For' box. The search results will highlight the name of the protein affected by this disease and the chromosomal location of the gene that causes it.

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Most popular questions from this chapter

At \(0.2 M \mathrm{Na}^{+},\) the melting temperature of double-stranded DNA is given by the formula, \(T_{m}=69.3+0.41(\% \mathrm{G}+\mathrm{C}) .\) The DNAs from mice and rats have \((\mathrm{G}+\mathrm{C})\) contents of \(44 \%\) and \(40 \%,\) respectively. Calculate the \(T_{\mathrm{m}}\) s for these DNAs in \(0.2 \mathrm{M}\) NaCl. If samples of these DNAs were inadvertently mixed, how might they be separated from one another?

X-ray diffraction studies indicate the existence of a novel doublestranded DNA helical conformation in which \(\Delta Z\) (the rise per base pair \()=0.32 \mathrm{nm}\) and \(P(\text { the pitch })=3.36 \mathrm{nm} .\) What are the other parameters of this novel helix: (a) the number of base pairs per turn, (b) \(\Delta \phi(\text { the mean rotation per base pair }),\) and (c) \(c(\) the true repeat)?

Think about the structure of DNA in its most common B-form double helical conformation and then list its most important structural features (deciding what is "important" from the biological role of DNA as the material of heredity . Arrange your answer with the most significant features first.

(Integrates with Chapter \(10 .\) ) Erwin Chargaff did not have any DNA samples from thermoacidophilic bacteria such as those that thrive in the geothermal springs of Yellowstone National Park. (Such bacteria had not been isolated by 1951 when Chargaff reported his results.) If he had obtained such a sample, what do you think its relative \(G: C\) content might have been? Why?

A "relaxed," circular, double-stranded DNA molecule \((1600 \mathrm{bp})\) is in a solution where conditions favor 10 bp per turn. What is the value of \(L_{0}\) for this DNA molecule? Suppose DNA gyrase introduces 12 negative supercoils into this molecule. What are the values of \(L\) \(W,\) and \(T\) now? What is the superhelical density, \(\sigma\) ?
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