Somatic cell genetic disorders

Question 1

All cancers result from the accumulation of ____.

Answer 1

genetic mutations

Question 2

T/F. Usually these mutations only occur after conception & are thus confined to certain somatic cells, but in a small but clinically important proportion, an initial key mutation is inherited.

Answer 2

T

Question 3

Theodor Boveri first advanced the idea that chromosomal changes caused cancer, and early support for this idea came from the demonstration in 1973 of a specific chromosomal translocation, the _____ in a type of leukaemia.

Answer 3

Philadelphia chromosome

Question 4

The Philadelphia chromosome is a result of ____ between chromosome 9 and 22.

Answer 4

reciprocal translocation

Question 5

The Philadelphia chromosome is a result of a reciprocal translocation between what chromosomes.

Answer 5

chromosome 9 and 22

Question 6

It is now recognised that changes in the DNA sequence occurring within somatic cells play an important role in ____ and in certain mosaic disorders such as ____, which results from post - zygotic somatic activating mutations in the GNAS1 gene.

Answer 6

ageing; McCune – Albright syndrome

Question 7

McCune – Albright syndrome results from post - zygotic somatic activating mutations in the ____ gene.

Answer 7

GNAS1

Question 8

_____ is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues. People with this disease develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called _____.

Answer 8

McCune-Albright syndrome; polyostotic fibrous dysplasia

Question 9

DNA sequence occurring within somatic cells may be responsible for the exacerbation of symptoms with age in some inherited disorders such as ____, in which there is somatic expansion of the inherited mutation and mitochondrial disorders.

Answer 9

myotonic dystrophy

Question 10

Myotonic dystrophy is caused by what phenomenon related to inherited mutation and mitochondrial disorders?

Answer 10

Somatic expansion of the inherited mutation and mitochondrial disorders

Question 11

Myotonic dystrophy is a form of muscular dystrophy that affects muscles and many other organs in the body. This disease is characterized by _____.

Answer 11

Inability to relax muscles at will.

Question 12

This disease is characterized by inability to relax muscles at will.

Answer 12

Myotonic dystrophy