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genomics > Inheritance > Flashcards

Inheritance Flashcards

1
Q

Features of autosomal dominant inheritance

A

Affected people in each generation
Males and females
All forms of transmission incl male to male

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2
Q

Risk of inheritance in autosomal dominant

A

50%
Variable penetrance (likelihood disease manigest if gene change present)

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3
Q

Autosomal recessive inheritance features

A

Cant always follow disease through pedigree
Males and females affected

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4
Q

Risk of inheriting recessive disease if parents are carriers

A

25% if both parents carriers
50% - carrier but inaffected
25% chance not carrier or affected

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5
Q

Children of affected parent risk of carrying disease

A

100% - all children of affected individual will be carriers

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6
Q

Risk of siblings of affected individual being a carrier

A

2/3

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7
Q

Why do X linked conditions affect men

A

Women have two X chromosomes - other allele makes up for it

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8
Q

Clues in x linked recessive inheritance

A

More than one generation affected
Only males effected
No male to male tranmission - males dont pass chromosome to their son

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9
Q

Risk of disease inheritacne X linked recessive

A

25% risk affected male in each pregnancy

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10
Q

Risk of unaffected male per pregnancy X linked

A

25%

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11
Q

Risk of unaffected male each pregnancy X linked

A

25%

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12
Q

Chances of non carrier female without condition

A

25% chance

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13
Q

Risk of carrier daughters and sons

A

50% risk

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14
Q

What is important to ask in a family history of genetics

A

Relationship breakdonw - divorce/estrangement
Adoption/other biological relationships/non paternity
Causes of daeth other than natural eg accidental, suicide, drug/alcohol related
Bereavment incl miscarrigae and abortion
Consanguinity - incest

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15
Q

What is a genomic test types

A

Analysis of DNA
Diagnostic - Test which seeks to confirm a clinical diagnsois
Predictive - test offered to relatives of someone confirmed genetic cancer

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16
Q

What is SNV vs CNV

A

SNV - variation in a single nucleotide (A or G)
Ins/del of a series of nuelotides (base pairs)
CNV - large scale duplication or deletion

17
Q

What stain used to view chromosomes and how appear

A

Giemsa
Striped G banding
Allows chromosomes to be distinguished from each pther

18
Q

What is karyotype analysis used for

A

Detecting whole chromosome changes eg trisomy, monosomy and translocation
Starting to be replaced w CGH

19
Q

What is FISH used for

A

Microdeletion or microdulpication detection
Specific situations and cancer diagnoses

20
Q

What is (aCGH

A

Array comparative genome hybridisation

21
Q

How is aCGH done

A

DNA in solution broken into fragments labelled w fluroresent dye
DNA from control in equal quantities - diff colour dye
Hybridise - stick to matching sequence DNA

22
Q

What happens if patient missing DNA fragment in aCGH

A

If missing fragment -> more control DNA bind to corresponding detector molecule -> NORMAL colour on UV ligtj

23
Q

What colour signal given if patient and control sample the same

A

Fusion colour signal

24
Q

What does a patient colour signal mean aCGH

A

Duplication of fragment

25
Q

What can and cant aCGH detect

A

Trisomy, CNVs, microdeletions and smaller ins/dels
Wont detect single nucloetide changes and cannot detect balanced translocations

26
Q

What is the key feature of next generation sequencing

A

Read and re-read fragments of DNA in solutino very quickly and reliably
Allows check whole genome or panel, real or virtual controls, generate significant results without being asked specifically

27
Q

What is an exome

A

1% of genoma - 18,000 genes

28
Q

What is sensitivity of a genomic test determined by

A

Technical - how good is lab technique
Gene coverage - can we test all relevant parts of genes ass w particular phenotype
Phenocopy - existence of non genetic conditions mimicing a genetic diorder

29
Q

What is specificity of genomic test

A

Variation in single gene can be caused by other diseases
eg Huntingtons disease ONYL caused by CAG repeat of HTT gene
whereas familial HCM - mutation in number of different genes - only 70% diagnostic sensitivitt
Same genes may also cause different disease eg LV hypertrophy

30
Q

Problems with genomic testing sensitivity and speciicity

A

Variable expressivity and peneterance - whether all genes that cause disease known or tested for and which disease genes can cause

genomics (11 decks)

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