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Year 2 - Child Health (DP) > Genetics > Flashcards

Flashcards in Genetics Deck (15):
1

How much of a genome is affected in aneuploidy?

Entire chromosome

2

How much of a genome is affected in a chromosomal translocation?

100 megabases

3

How much of a genome is affected in a deletion?

10 megabases

4

How much of a genome is affected in a microdeletion?

5 megabases

5

How much of a genome is affected in the deletion of part of a gene?

1000 bases

6

How much of a genome is affected in a point mutation?

1 base

7

How do we detect aneuploidy, a chromsomal translocation or a deletion?

Standard karyotype

8

How can we detect a slightly smaller deletion or a microdeletion?

Fluorescence in-situ hybridisation

9

How can we detect the deletion of part of a gene?

Multiplex Ligation Dependent Amplification

10

How can we detect a point mutation?

PCR amplification and sequencing

11

What does Array Comparative Genomic Hybridisation detect?

Chromosomal imbalance

12

How do we know if a change causes disease?

Gene matches phenotype
Has an effect on gene function
Not listed as a polymorphism
It is an evolutionary conserved bit of a gene
De-novo in a child:
- Only the child is affected
Present in other affected family members

13

Who is a causative mutation found in?

Affected people (not in unaffected)

14

Do all affected people with a causative mutation have a condition?

No -> Beware of penetrance

15

What are the first line investigations into a suspected genetic abnormality?

Creatinine kinase
TFTs, U+Es, Bone group
LFTs, FBC and film
Chromosome microarray, Fragile X