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EMs -GId > Week 1 GID > Flashcards

Week 1 GID Flashcards

1
Q

Is stroke genetic or enviromental cause or both.

A

multifactorial with environment and polygenic factors. Sometimes can be caused by a single gene influence (Cadasil)

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2
Q

The traits of a genetic disorder

A

Rare, Genetics simple, Unifactorial, High recurrence rate: high chance of others to have disorder

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3
Q

The traits of enviromental disorder

A

Common, Genetically complex, multifactorial, low recurrence rate,

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4
Q

What does multifatorial mean

A

The combination of multiple gene inheritance and the affect of the enviroment

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5
Q

What is single gene mutation

A

mutation in a single gene

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6
Q

Chromosomal mutation

A

imbalance or rearrangement in chromosome structure eg aneuploidy, deletion, translocation

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7
Q

Mitochondrial

A

mutation in mitochondrial DNA

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8
Q

Somatic mutation

A

Mutation that occur in the general genes and can cause cancer

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9
Q

Does AD inhertiance run between generation and does it affect males or females more?

A

runs between generations and affects males and females equally

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10
Q

% chance of inheritance of AD disease

A

50% chance of inhertiance for new born

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11
Q

Give examples of AD inhertiance disease

A

Myotonic dystrophy
Marfan Syndrome
Huntington disease

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12
Q

What does penetrance mean?

A

The frequency with which a specific genotype is expressed by those individuals that possess it, usually given as a percentage.

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13
Q

What is incomplete inheritance and give example of mutation of this type?

A

not all relatives who inherit the mutation develop the disorder – eg BRCA1 mutations 80% life time chance of developing breast cancer

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14
Q

What type of inheritance is AD

A

incomplete inheritance

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15
Q

What does expressivity mean?

A

variation in expression - the extent to which a heritable trait is manifested by an individual.  how the disease shows itself

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16
Q

What does Anticipation mean and give example

A

the symptoms of a genetic disorder become apparent at an earlier age as it is passed from one generation to the next. In most cases there is an increase in the severity of symptoms too. Example is Huntington’s disease

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17
Q

New mutation/ De novo

A

a new mutation that has occurred during gametogenesis or in early embryonic development. The parents do not have it

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18
Q

Is Ar disease passed on between generations and equal between genders

A

Usually only seen in one generation and equal in affect

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19
Q

Is Ar inheritance gene mutation or chromosomal deletion

A

gene mutation

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20
Q

What is the chance of inheriting a Ar disease

A

1/4

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21
Q

Risk of the unbrone child being a carrier of Ar diseae

A

2/3rds

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22
Q

Give examples of Ar diseases

A
  • Cystic fibrosis
  • Many of the metabolic disorders
  • Haemachromatosis
  • Sickle cell disease
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23
Q

In X linked disease is the male or female affected

A

Male are affected but females can be mildly affected ranging to severe symtpoms

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24
Q

Can or cant a male transmit the XL disease and why?

A

It cannot because males only give the Y chromsome and therefore only transmit from the female

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25
Q

give examples of XL diseases

A

o Duchenne Muscular dystrophy,
o Fragile X syndrome
o Red / green colour-blindness
o Haemophilia

26
Q

What are the probablities for the child if the mother is a carrier

A

o 1/4 (25%) normal girl + 1/4 (25%) carrier girl

o 1/4 (25%) normal boy + 1/4 (25%) affected boy

27
Q

Probablity if the father is affected

A

o All daughters are carriers

o All sons are unaffected (no male to male transmission

28
Q

The two main factors that affect the expression of the phenotype of XL disease in females is

A

X inactivation

XL dominant vs XL recessive inheritance

29
Q

Can you predict the phenotype of a female who havea XL disease with prenatal testing?

A

NO

30
Q

What is X inactivation

A

It is when the gamete has two X chromosomes and one of the X chrosome is randomly switched off. Occurs in embryogensis

31
Q

Examples of Xl dominant disease

A

o Rett syndrome (lethal in males, phenotype only in females)

o Fragile X syndrome – females:- asymptomatic to fully symptomatic ( due to X-inactivation pattern)

32
Q

Examples of Xl recessive disease

A

o Red-green colour blindness
o Haemophilia
o Duchene Muscular dystrophy
o Carrier girls usually unaffected BUT can have significant symptoms because of X-inactivation (switches off normal X)
o Girls fully affected if inherit mutation from mum and dad

33
Q

Is mitchondrial inheritance maternal or paternal inherited and why?

A

It is maternally inherited because the sperm has no mitochondria so all comes from the mother

34
Q

how many genes within the mitchondrial DNA

A

27

35
Q

Give exampes of non genetic testing

A

Blood testing –> enzyme assasys
Haemotology–> thalasemia
X Rays

36
Q

Examples of genetic testing

A

o Genomic architecture –> Cytogenetics

o Sequencing –> OLA assays + MLPA tests

37
Q

What does Pharmacogenomics mean?

A

Analysing entire genomes, across groups of individuals, to identify the genetic factors influencing responses to a drug.

38
Q

What does Pharmacogenetics mean?

A

Studying an individual’s genetic make up in order to predict responses to a drug and guide prescription

39
Q

What is Chronic myeloid leukemia ?

A

It is the translocation of a part of chromosome 9 with 22. Causing the over production of WBC

40
Q

What is the name of the chromsome that caries the BCR/abl gene of CML

A

Philadelphia chromosome

41
Q

What treatment is given to treat CML

A

Glevec

42
Q

what test do you do if you already know the identity of the mutation?

A

simple and cheap analytical methods –> robust assay

43
Q

What tests do you do if you don’t know the identity of the mutation?

A

You do clonal sequencing and discovery methods ( Sanger DNA sequences)

44
Q

What enzyme is used to add nucleotides in DNA replication/sequencing

A

DNA polymerase

45
Q

Go through the process of PCR

A

Heat too 97 degrees to denature and sepearte the DNA strand.
Then cool down to 50 degrees for annealing and allow the adding of primers
Then heat slightly too 72 degrees for the addition of nucleotides –> DNA poylmerization can occur

46
Q

Give examples of what PCR can be used for?

A

Identifity genetic finger prints
DNA sequences
Isolation of specific DNA strands

47
Q

Why do DNA move through the gel electrophersis

A

Because they are negatively charged due to the phosphate backbone

48
Q

What is the factor that causes the different movement of DNA strands

A

The size of teh DNA strand

49
Q

What is allele specific PCR used for

A

For the absense or presence of product

50
Q

What is the common mutation in CF

A

3 base pair deletion –> elimination of a single aa

51
Q

what is the most common inherited cause of deafiness

A

connexin 26

52
Q

What is connexin 26

A

1 base pari deletion –> nucleotide 35

53
Q

what is Allele specific mutation detection ?

A

Process by distinguishing from two different alleles that may only have a single diference in one base

54
Q

What information does the CF genotype assay is used for?

A

carrier screening in adults in reporductive age
aind in new born screeing
used in testing new borns and children

55
Q

What is Cf genotype assay not used in?

A

Pre implantation testing and fetal diagnostic

56
Q

Why might the tempalte be unsuitable for PCR

A

To big for the PCr
Fragile X syndrome FMR1 gene has repetitive tract of (CGG)n sequence
Have to many GC rich regions

57
Q

What technique is used for unsuitable templates for PCr

A

Southern blotting

58
Q

what technique do you use for identifying unknown mutation and what is the pros

A

DNA sequence –> find the exact postion of the mutation and what type of mutation it is

59
Q

For DNA sequencing what do you need for the addition of nucleotides

A

Free hydroxl group on the 3 end

60
Q

What direction is DNA sequencing ?

A

5 to 3 direction

61
Q

What DNA is sequenced by clonal sequencing?

A

Exome panels –> only exons of the gene

62
Q

Why do DNA testing

A

confirm or refute clinical diagnosis, prenatal testing, assess carrier status and for predicting testing

EMs -GId (7 decks)

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