Young: Medical Genetics - Extended Matching Questions

Table of Contents

1. Chapter 10
   1. Question 1
   2. Question 2

Question 1

Instructions: Each group of extended matching questions consists of lettered options followed by a list of numbered problems/questions. For each numbered problem/question select the one lettered option that is most closely answers the question. You can use the lettered options once, more than once, or not at all.

Theme: Genes and cancer

Options:

1. Activation by point mutation
2. Formation of a new chimaeric gene
3. Gene amplification
4. Loss of heterozygosity
5. Relocation

Each of the following genes is associated with the development of cancer. Match each gene with the relevant underlying mutational mechanism.

1

Scenario 1   CMYC Choose... Activation by point mutation Formation of a new chimaeric gene Gene amplification Loss of heterozygosity Relocation Increased expression of CMYC, caused by relocation to a genomic region where it is up-regulated, results in Burkitt's lymphoma. See Page 191.Incorrect. See Page 191.Your answer has been saved.

2

Scenario 2   RB1 Choose... Activation by point mutation Formation of a new chimaeric gene Gene amplification Loss of heterozygosity Relocation Loss of heterozygosity, caused for example by a deletion, is associated with the development of retinoblastoma and other tumours in individuals who are heterozygous for a germline mutation in RB1. See Page 193.Incorrect. See Page 193.Your answer has been saved.

3

Scenario 3   H-RAS Choose... Activation by point mutation Formation of a new chimaeric gene Gene amplification Loss of heterozygosity Relocation Activating (gain-of-function) mutations in several members of the RAS gene family cause various tumours, including bladder, lung and pancreas. See Page 188.Incorrect. See Page 188.Your answer has been saved.

4

Scenario 4   ABL Choose... Activation by point mutation Formation of a new chimaeric gene Gene amplification Loss of heterozygosity Relocation The Philadelphia chromosome is formed by a translocation which results in a fusion gene involving the ABL proto-oncogene on chromosome 9 and the BCR gene on chromosome 22. See Page 190.Incorrect. See Page 190.Your answer has been saved.

5

Scenario 5   NMYC Choose... Activation by point mutation Formation of a new chimaeric gene Gene amplification Loss of heterozygosity Relocation NMYC is amplified in advanced cases of neuroblastoma. The amplified copies of the gene can appear as tiny additional chromosomes known as double minutes. See Page 189.Incorrect. See Page 189.Your answer has been saved.