Molecular Path

Question 1

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

Answer 1

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.

Question 2

What type of testing can detect gene mutations?

Answer 2

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

Question 3

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

Answer 3

B thalasemia.

Question 4

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

Answer 4

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

Indirect just need to know gene marker nearby for linkage.

Question 5

What is RFLP?

Answer 5

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)

Question 6

What does FISH detect?

Answer 6

Fluorescense targets specifc chromosomes.

Can be used to determine trisomy.

Question 7

What does SKY testing check for?

Answer 7

Chromosomal rearangements for karyotyping.

Normally SKY chromosomes are not multicolored.