24: Molecular Pathology

Question 1

molecular diagnostic techniques can be used to … (4)

Answer 1

• detection of inherited or acquired mutations
• accurate diagnosis and classification of tumors
• detection of infectious agents
• tissue typing, paternity testing and forensic medicine

Question 2

what analysis can be used to look for aneuploidy, sex chromosomal abnormality, fragile X, and translocations

Answer 2

cytogenetic analysis

Question 3

what are 2 advantages of molecular analysis v. cytogenetic analysis

Answer 3

• very sensitive and so sample size can be small

- not dependent of analysis of the gene product so almost any cell will work

Question 4

the loss or gain of an entire chromosome

Answer 4

genome mutation

Question 5

what analysis can be used for genome mutations

Answer 5

cytogenetic or molecular analysis

Question 6

rearrangement of genetic material

Answer 6

chromosme mutation

Question 7

what analysis can be used for chromosme mutations

Answer 7

cytogenetic or molecular analysis

Question 8

the complete deletion of a gene or as little as a single point mutation

Answer 8

gene mutation

Question 9

what analysis can be used for gene mutations

Answer 9

only molecular techniques

Question 10

mutations at certain positions in the introns can cause errors in …

Answer 10

splicing

Question 11

mutation in the promoter or enhancers of gnees can cause a decrease in..

Answer 11

expression

Question 12

mutations in the poly A tail at the 3’ end of the gene can lead to …

Answer 12

unstable mRNA

Question 13

B thallassemia

Answer 13

different mutations causing the same disease

• splice site
• poly A tail
• promoter/enhancer

Question 14

mutations in the DNA by comparison with a known DNA sequence

Answer 14

direct detection

Question 15

through linkage of the disease gene with a marker that is nearby

Answer 15

indirect detection

Question 16

if a mutation alters or destroys a restriction endonuclease site on the DNA then it can be detected by: (3)

Answer 16

• amplifying the region of interest with PCR
• digesting the PCR products with the appropriate restriction enzyme
• separating the digestion products by electrophoresis

Question 17

linkage of the disease gene with a marker that is nearby

Answer 17

indirect detection of mutations

via site and length polymorphisms

Question 18

Does NOT require the gene sequence to be known but DOES require that the polymorphism used for detection e sufficiently close to the mutated gene so that the marker and the mutation are inherited together

Answer 18

indirect detection or linkage analysis

Question 19

study of heritable chemical modifications of DNA or chromatin that does not change the DNA sequence

Answer 19

epigenetics

Question 20

methylation of DNA and methylation or acetylation of histones

Answer 20

epigenetic alterations

Question 21

increased methylation –>

Answer 21

decreased expression of a gene

Question 22

histone acetylation –>

Answer 22

decreased gene expression