genetics

E x p l o r i n g g E n o m i c s

Atlas of Genetics and Cytogenetics in Oncology and Haematology

In this chapter, we discussed how variations in chromosome num-ber and alterations in chromosome structure can affect the chromosome content of gametes to create genetic al- terations in offspring and abnormal phe- notypes. The Atlas of Genetics and Cyto- genetics in Oncology and Haematology is a peer-reviewed, online journal and database of cytogenetics that specializes in cataloging chromosome abnormalities and genes involved in different cancers. Hematology is the study of blood. Much of the information presented in the atlas has been provided from clinical studies of patients with blood cancers, such as different forms of leukemia (cancer of white blood cells), that have revealed variations in chromosome number and chromosome structural defects (duplica- tions, deletions, and translocations). In this exercise we explore the Atlas of Ge- netics site to learn more about human chromosome abnormalities.

Exercise I – Exploring Chromosome 9

1. Access the Atlas of Genetics and Cyto- genetics in Oncology and Haematology at http://atlasgeneticsoncology.org.

2. Notice that the homepage lists data- base entries in several ways, includ- ing an alphabetical listing of cancer genes, a listing by chromosome, and a catalog of case reports. We will ex- plore each of these features here.

3. Under “Entities by Chromosome” click on chromosome 9. Explore the many links to abnormalities of chromosome 9 involved in different leukemias. No- tice that many of these are transloca- tions. For example, t9;12 (q34;p13) symbolizes a translocation between chromosome 9, band 34 of the q- arm, and chromosome 12, band 13 of the p-arm.

4. Find the link to “Familial melanoma,” review the information on this condition, and then address the fol- lowing items:

a. Describe this disease condition.

b. What locus on chromosome 9 is implicated in this disease? What gene is found at this locus? What is the function of this gene? (Use the disease gene links from the familial melanoma page or search the “Genes” feature of this database to learn about the gene’s function.)

Exercise II – Case Reports: Rare Examples of Chromosome Alterations

The “Case reports” section of the atlas (see the link at the top of the page) provides reports on examples of rare conditions caused by chromosome abnormalities that have been observed in different pa- tients. Many of these case reports contain excellent examples of data generated

using the cytogenetic techniques discussed in this chapter and elsewhere in the book.

1. Explore the case reports presented in the atlas to learn about rare examples of chromosome abnormalities that have been observed by scientists and physicians around the world. Choose one that interests you for this assignment.

2. Provide the citation for the paper in correct APA or CSE format.

3. Answer these questions:

a. What chromosome abnormality is reported by this group?

b. What techniques were used to diagnose this condition, and what tissue samples were used for the diagnosis?

c. What is the disease condition associated with this patient?

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