Genetics in children Flashcards

1
Q

What tests are genome wide testing?

A

Array genome hybridisation
Exome enriched next generation sequencing
Whole genome sequencing

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2
Q

What is the human life cycle?

A
Infertility
Antenatal
Neonatal
Paediatric
Adult onset
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3
Q

How big is the human genome?

A

3,000000000 base pairs
30,000 genes
3,000000 polymorphisms

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4
Q

How is an aneuploidy tested?

A

Entire chromosome affected so it is a standard karyotype

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5
Q

How is a chromosomal translocation tested (100 megabases)

A

Standard karyotype

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6
Q

How is a chromosomal deletion tested (10 megabases)

A

Fluorescence in situ hybridisation and a karyotype

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7
Q

How is a microdeletion tested (5 megabases)

A

Fluorescence in situ hybridisation

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8
Q

How is a deletion of part of a gene tested (1000 bases)

A

Multiplex: ligation dependant amplification

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9
Q

How is a point mutation tested (1 base)

A

PCR amplification and sequencing

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10
Q

What is the purpose of a chromosomoe microarray genoic hybridisation?

A

Allows you to look for sub-microscopic deletions of duplications of chromosome material across the whoel genome

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11
Q

What is the patients DNA compared with?

A

Control DNA

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12
Q

What will half as much DNA in comparison with the control DNA suggest?

A

Deletion

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13
Q

What will 50% more DNA in comparison with the control DNA suggest?

A

Duplication

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14
Q

What type of chromosome rearrangements with chromosome microarray detect?

A

Unbalanced chromosome rearrangements

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15
Q

What is DiGeorge syndrome?

A

Deletion of a portion of gene from the q arm of chromosome 22

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16
Q

How is DiGeorge syndrome inherited?

A

Autosomal dominant

17
Q

What genetic test is done for DiGeorge diagnosis?

A

Array comparative genomic hybridisation

18
Q

What is an intronic variant?

A

Low likelihood of effect

19
Q

What is an exonic variant?

A

Potential to change amino acid sequence, create a stop, cause a frameshift or have no effect at all

20
Q

What can cause a splicing error?

A

Change to splice sequence 1 or 2 bases into intron

21
Q

How do you know that a genetic change causes disease?

A
Gene matches phenoctype
Has an effect on gene function 
Not listed as a polymorphism
Evolutionary conserved bit of gene
De-novo in child 
Present in other affected family members
22
Q

What are the different types of mutations in DNA sequences?

A
Wild type
Stop
Missense
Insertion
Deletion (out of frame)
Deletion (in frame) 
Triplet expansion
23
Q

How are phenotypes identified?

A

Dysmorphology database
Pubmed
Online mendelian inheritance in man
Other geneticists

24
Q

What is the phenotype of kabuki makeup syndrome?

A

Cleft palate
Unusual eyes and eyebrows
Tendency to drool
Short 2nd and 5th finger

25
What is the genotype in kabuki makeup syndrome?
Mutation in MLL2 which is a protein that makes histones | Produces a stop codon creates a non-functional protein
26
What is the best test for de-novo mutations?
Next generation sequencing with clinical assessment
27
How is Kabuki syndrome inherited?
Autosomal dominant
28
How can spinomuscular atrophy be treated?
Treatments that improve gene splicing
29
How can tuberous sclerosis be treated?
Rapamycin targets mTor signalling