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nsg 470 > Genetic Lecture exam 3 > Flashcards

Genetic Lecture exam 3 Flashcards

1
Q

Why preform genetic testing

A

-Establish or confirm a genetic diagnosis
-Reproductive decision making: seeing what conditions your kids are predisposed to
-Prediction of future disease
-Aid in med mgmt: seeing what drugs are effective

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2
Q

Paradigm shift

A

-Going from gathering history, diagnosis hypothesis and confirming it with a test
-To ordering a test to forming a hypothesis and diagnosis based on it while doing a detailed history to confirm it

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3
Q

Genome

A

A person’s genetic blueprint

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4
Q

Genotype

A

Inherited from the parents, your “code”

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5
Q

Phenotype

A

Expression of the genotype based on environmental factors
-Can indicate something is wrong with the genotype

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6
Q

Aneuploidy

A

Chromosomal abnormality, a cell that does not contain a multitude of 23 chromosomes
-Essentially one of the chromosome pairs has an extra or one less
-Trisomy or monosomy
-Occurs due to a non-disjunction typically

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7
Q

Trisomy

A

Contains three copies in one chromosome

-Its better to have 3 than 1

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8
Q

Disjunction

A

-Normal
-Separation of chromosomes during cell division, into the typical pairs

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9
Q

Nondisjunction

A

-Abnormal
-Improper separation of chromosomes into their pairs, leading to trisomy and monosomy
-Usually the cause of the aneuploidy
-Occurs during meiosis 1/2

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10
Q

Cell free DNA

A

Genetic testing, prenatally that is minimally invasive
-Done through a maternal blood sample, as it contains floating fetal DNA
-The fetal cells when they perform apoptosis leaves DNA floating in the bloodstream, which enters the maternal bloodstream
-Significantly less invasive than amniocentesis or taking a fetal blood sample

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11
Q

Non invasive prenatal test (NIPT)

A

-Cell free DNA test
-Test for Trisomy 13, 18, 21 as well as sex chromosome differences

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12
Q

Down Syndrome

A

-Trisomy 21
-Risk increases with maternal age (1/800 births)

Characteristics
-Mentally challenged
-Low nasal bridge
-Epicanthal folds
-Protruding tongue
-Poor muscle tone

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13
Q

Turner syndrome

A

-Sex chromosome aneuploidy: can be tested prenatal
Female with only one X chromosome

Characteristics
-Absence of ovaries (sterile)
-Short stature
-Webbing of the neck (Neck looks super thick)
-Edema
-Underdeveloped breast, wide nipples

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14
Q

Klinefelter syndrome

A

-Sex chromosome aneuploidy: can be tested prenatal
Individual with 2X 1Y

Characteristics
-Male appearance
-Has female like breast
-Small testes
-Sparse body hair
-Long limbs

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15
Q

Indications for prenatal or ped testing

A

-Developmental delays
-Intellectual disabilities
-Dysmorphic features
-Family history
-FTT
-Atypical growth
-Cafe au lait spots
-Congenital defects
-Hearing loss
Seizures
-Atypical sexual development

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16
Q

Genetics

A

-Observing one gene at a time and finding an effect
-Where we are

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17
Q

Genomics

A

-Observing the entire genome and the interactions between genes and how they affect development
-Where we wanna go

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18
Q

Adenine (A) bond with

A

Thymine (T)

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19
Q

Guanine (G) bonds with

A

Cytosine (C)

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20
Q

Protein

A

50+ amino acids

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21
Q

Peptide

A

2 or more amino acids

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22
Q

Amino acids

A

3 bases- one codon

23
Q

Cystic fibrosis

A

-Occurs in white people mainly
-Autosomal recessive, 1/29 white people are carriers
-CFTR gene

24
Q

CFTR modulators

A

-Modulate the gene responsible for CF, targeting the root cause
-Corrects the malfunctioning protein
-Works well, adding decades to life but super super expensive

25
Q

Best initial genetic tool

A

Family history

26
Q

Family history

A

-Simplest, most inexpensive, underutilized genetic tool

27
Q

NCCN genetic family high risk assessment: Breast cancer

A

-Testing for breast cancer susceptibility genes
-BRCA1, BRCA2 CDH1 PALB2 PTEN TP53

-Indicated for pt with breast cancer if they are under 50
-Or any age if they have multiple primaries, male breast cancer or Ashkenazi Jewish heritage

28
Q

NCCN testing: Ovarian cancer

A

-Testing of pt with epithelial ovarian cancer is indicated at any age
-Family history, first or second degree relative with ovarian cancer
-All people with pancreatic cancer
-First degree relatives diagnosed with pancreatic cancer

29
Q

BRCA 1/2

A

Raise the risk of cancer, both breast and ovarian
-Come from different chromosomes (1 is 17) (2 is 13)

-50-85% chance of developing breast cancer
-20-40% of developing ovarian cancer

30
Q

decision making Post BRCA 1/2

A

May lead to preventative surgery like a mastectomy
-PARP inhibitors can be given for BRCA carriers

31
Q

Sanger sequencing

A

-Sucks, historic gold standard
-2 per base pair

32
Q

Next gen sequencing

A

-Massively parallel sequencing
-100-10000 of reads per base pair

33
Q

Syndrome specific testing

A

-Only looking for specific genes, high positivity rate low unspecificity rate

34
Q

Comprehensive testing

A

-Looking for everything, takes a while , low positivity rate, high unspecificity rate

35
Q

Abnormal variation (mutation)

A

“harmful”
-Growing another set of ears

36
Q

Normal variation (Polymorphism)

A

SNP, like hair color changing

37
Q

Cowden syndrome

A

-Autosomal dominant
-Gene that controls it is PTEN
-Increases risk of thyroid, breast and endometrial cancer
-Causes macrocephaly lipoma and fibroma

38
Q

ATM

A

-Gene that encodes a protein that belongs to P 13/14 that helps maintain genomic integrity
-Mutations with this gene are associated with Ataxia telangiectasia (Autosomal recessive neurodegen disorder)
-Also mutations can increase risk of breast cancer
-Carriers can be identified within 1% of the population and should do partner testing

39
Q

CHEK2

A

-Gene that provides instructions how to make checkpoint kinase 2 gene which acts as a tumor suppressor
-Mutation is high in polish population

Shows increased risk of cancer
-Prostate
-Breast
-Colon

40
Q

3 mutations of CHEK2 gene

A

1100delC: Premature protein truncation
IVS2+1G>A Premature protein truncation
I157T: Substitutes isoleucine for threonine

41
Q

TP53

A

Gene, basically guarantees you get cancer
-Avoid radiation at all cost
-Only can get MRI

42
Q

PARP inhibitors

A

-Used BRCA 1/2
-Targets the mutation, killing cancer at the source (apoptosis)
-Used in ovarian cancer

43
Q

Precision oncology

A

-Test tumor to find the drug most receptive to it
-Figure out the mutation
-Therapy is based on sample

44
Q

Importance of identifying inherited cancer:

A

Prevention
Early diagnosis
Treatment
Quality of life

45
Q

Importance of identifying inherited cancer: Prevention

A

-Preventive surgery and chemoprevention

46
Q

Importance of identifying inherited cancer: Early diagnosis and detection

A

Mammograms and MRI

47
Q

Importance of identifying inherited cancer: Treatment

A

Surgery and reconstruction, chemo and novel agents

48
Q

Importance of identifying inherited cancer: QOL

A

Improves post surgery, risk reduction, reproductive health

49
Q

Chemoprevention

A

-Tamoxifen(Soltamox), used in women with a 5 year risk of 1.67%
-Raloxifene (Evista)

-Prevents cancer

50
Q

Tamoxifen: Cancer prevention

A

CYP2D6 is the main enzyme for converting tamoxifen to the active metabolite endofixen
-Within people’s genetic code there is variants with reduced or absent levels of this enzyme leading to severely diminished effects effects of Tamoxifen
-Can use genetic testing to find a drug that might work better rather than use a drug that wont work

51
Q

CYP2C19

A

Gene responsible for the metabolism of Clopidogrel (Plavix)
-pts with affected genes are not able to metabolize plavix, putting them at a greater risk of blood clots
-Genetic testing can be used to make sure plavix will work

52
Q

Ethical legal and social issues

A

-Benefits
Identification (High risk carriers, non carriers in families with known mutations)
Early detection
Relieves anxiety

Privacy: duty to warn, other family members of their risk

53
Q

eMERGE

A

-Essentially it says issues of consent, contact, engagement and participation in genetic counseling to be considered before broader implementation of DNA sequence results into health care

-You cant force this on them
-People shared their genetic more often when they had a genetic provider than a non-genetic provider

54
Q

Cardiac and genetic testing

A

Familial hypercholesterolemia
-Most common inherited cause of premature CHD is white people
-Essentially there is a gene to test if youre predisposed

nsg 470 (26 decks)

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