Somatic cell genetic disorders Flashcards

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1
Q

All cancers result from the accumulation of ____.

A

genetic mutations

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2
Q

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.

A

T

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3
Q

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.

A

Philadelphia chromosome

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4
Q

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

A

reciprocal translocation

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5
Q

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

A

chromosome 9 and 22

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6
Q

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.

A

ageing; McCune – Albright syndrome

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7
Q

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

A

GNAS1

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8
Q

_____ 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 _____.

A

McCune-Albright syndrome; polyostotic fibrous dysplasia

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9
Q

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.

A

myotonic dystrophy

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10
Q

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

A

Somatic expansion of the inherited mutation and mitochondrial disorders

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11
Q

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

A

Inability to relax muscles at will.

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12
Q

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

A

Myotonic dystrophy

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