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 20, Problem 18P

The chromosome 9/22 translocation associated with CML (chronic myelogenous leukemia) is called the Philadelphia chromosome after the city in which its cancer association was first discovered in 1960. People with CML do not inherit this translocation—it occurs in somatic cells. Why do you think that this particular translocation that fuses the bcr and abl genes happens independently in the somatic cells of many different people?

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With age, somatic cells are thought to accumulate genomic "scars"as a result of the inaccurate repair of double-strand breaks by non homologous end-joining (NHEJ). Estimates based on the frequency of breaks in primary human fibroblasts suggest that by age 70 each human somatic cell may carry some 2000 NHEJ-induced mutations due to inaccurate repair. If these mutations were distributed randomly around the genome, how many genes would you expect to be affected? Would you expect cell function to be compromised? Why or why not? (Assume that 2% of the genome - 1.5% coding and 0.5% regulatory - is crucial information.)
Why would a mutation in a somatic cell of a multicellular organism not necessarily result in a detectable phenotype?
Why does this translocation cause leukemia rather than cancer in a different tissue type, such as the lung?

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Genetics: From Genes to Genomes

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