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Real Path Exam III > Molecular Path > Flashcards

Flashcards in Molecular Path Deck (7)
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1
Q

When comparing molecular analysis to cytogenic analysis one can conclude that with molecular analysis,,,,

A

One can find very minor subtle changes that cannot be seen with cytogenic/
It is not dependent on gene product so any cell will work.

2
Q

What type of testing can detect gene mutations?

A

Molecular analysis can find the complte deletion of one gene or single point mutation.

3
Q

What disease can occur due to mutations in promoters, enhancers, or polyadenylation

A

B thalasemia.

4
Q

What is the difference between direct and indirect detection of a mutation?

A

Direct detection you must know the sequencing, RFLP, or allele specific extension.

Indirect just need to know gene marker nearby for linkage.

5
Q

What is RFLP?

A

A form of direct detection in which searching for a mutation that alters or destroys a restriction endonuclease site on the DNA.

Useful for diseases that occur at the same site (CF and sickle cell)

6
Q

What does FISH detect?

A

Fluorescense targets specifc chromosomes.

Can be used to determine trisomy.

7
Q

What does SKY testing check for?

A

Chromosomal rearangements for karyotyping.

Normally SKY chromosomes are not multicolored.