Identification of the Chromosomal Origin of Complex Structural Rearrangement Flashcards

1
Q

T/F. Standard G banding can easily resolve complex rearrangement involving several chromosomes for example as found in some malignant tissues.

A

False. In these situations, DNA probes may be used in molecular in situ hybridisation procedures to label the specific components of an abnormal chromosome and so identify their origins.

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2
Q

These are repetitive probes which are centromere specific.

A

alphoid probes

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3
Q

These are probes which contain an insert large enough to provide a clear signal in the majority of metaphases.

A

cosmid or yeast artificial chromosome (YAC) probes

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4
Q

DNA probes can be also used to help to determine the precise position of a breakpoint in a chromosome translocation, and this can occasionally be invaluable in the identification of genes underlying specific conditions, such as the ____.

A

CHARGE association

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5
Q

T/F. The origin of smaller duplications & deletions may be easy to determine, particularly if the aberration is unbalanced & has arisen de novo .

A

False.

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6
Q

Chromosome paints may be made from ____, _____ or ____ sorted by a fluorescence activated cell sorting (FACS) machine.

A

chromosome - specific genomic libraries; single - chromosome somatic – cell hybrids; PCR - amplified chromosomes

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6
Q

T/F. Chromosome paints may also be made from abnormal chromosomes, w/c are sorted by FACS, amplified by PCR & painted onto normal metaphase chromosomes.

A

True

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7
Q

____ is a more recent development that enables several DNA probes to be used simultaneously.

A

Multicolour FISH (M - FISH)

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8
Q

Multicolor FISH has revealed that most de novo duplications are ____ or other forms of _____.

A

tandem duplications; intrachromosomal rearrangement

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9
Q

T/F. When applied to chromosome paints, it is possible, using different combinations of fluorescent dyes, to give each chromosome a distinctive colour & this can be useful in the analysis of complex chromosome rearrangements.

A

True.

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