Analysis of Chromosomal Disorders in the Clinic - 2 Flashcards

(11 cards)

1
Q

What does CMA stand for?

A

Chromosomal Microarray

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the function of CMA?

A

A generalized, genome-wide survey for imbalances

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What do the different colours stand for on the CMA.

A
Green = deletion in sample at that locus
Red = duplication in sample at that locus 
Yellow = balanced at that locus
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What causes normal neonatal jaundice?

A

Bilirubin is unconjugated (bilirubin is the breakdown of the haem)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What does conjugated hyperbilirubinemia imply?

A

Liver or biliary disease

Buildup of bilirubin (problem expressing bilirubin into bile ducts)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Name the symptoms/characteristics of Alagille syndrome.

A

Multiple malformations - biliary tract, heart, spine, eyes
Variable expressivity
A characteristic face - angular, long face, pointed chin, deep set eyes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What causes the jaundice in Alagille syndrome?

A

Hypoplasia of the biliary tree - a developmental defect

Caused by mutations in one of two genes - JAG1 and NOTCH2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

List the diagnostic options for Alagille syndrome.

A

Sequence the JAG1 or NOTCH2 genes
Look for small scale deletions/duplications in genes
Look for larger deletions/duplications that encompass the JAG1 or NOTCH2 genes
Last choice above is method of choice for chromosomal microarray

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Describe the basis of chromosomal microarray.

A

Diagnoses genomic imbalance at high resolution.
Optical microscopic analysis is used rarely now
Accurate sizing of deletions and duplications
Substantially bridges the gap between chromosomal analysis and sequencing level analysis of genetic disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What does the chromosomal microarray use?

A

Genomic DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Describe how a chromosomal microarray occurs.

A

Looks for a balance in the genome of a test case & a control genome.
No need for metaphases
Differential labelling of patient & normal DNA
Hybridization of 1:1 mixture to a spotted DNA array (chromosomal microarray = Comparative Genomic Hybridization)
Detect relative difference in DNA content of test vs normal by differences in red: green fluorescence ratio

How well did you know this?
1
Not at all
2
3
4
5
Perfectly