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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
Best initial genetic tool
Family history
26
Family history
-Simplest, most inexpensive, underutilized genetic tool
27
NCCN genetic family high risk assessment: Breast cancer
-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
NCCN testing: Ovarian cancer
-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
BRCA 1/2
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
decision making Post BRCA 1/2
May lead to preventative surgery like a mastectomy -PARP inhibitors can be given for BRCA carriers
31
Sanger sequencing
-Sucks, historic gold standard -2 per base pair
32
Next gen sequencing
-Massively parallel sequencing -100-10000 of reads per base pair
33
Syndrome specific testing
-Only looking for specific genes, high positivity rate low unspecificity rate
34
Comprehensive testing
-Looking for everything, takes a while , low positivity rate, high unspecificity rate
35
Abnormal variation (mutation)
"harmful" -Growing another set of ears
36
Normal variation (Polymorphism)
SNP, like hair color changing
37
Cowden syndrome
-Autosomal dominant -Gene that controls it is **PTEN** -Increases risk of thyroid, breast and endometrial cancer -Causes macrocephaly lipoma and fibroma
38
ATM
-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
CHEK2
-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
3 mutations of CHEK2 gene
1100delC: Premature protein truncation IVS2+1G>A Premature protein truncation I157T: Substitutes isoleucine for threonine
41
TP53
Gene, basically guarantees you get cancer -Avoid radiation at all cost -Only can get MRI
42
PARP inhibitors
-Used BRCA 1/2 -Targets the mutation, killing cancer at the source (apoptosis) -Used in ovarian cancer
43
Precision oncology
-Test tumor to find the drug most receptive to it -Figure out the mutation -Therapy is based on sample
44
Importance of identifying inherited cancer:
Prevention Early diagnosis Treatment Quality of life
45
Importance of identifying inherited cancer: Prevention
-Preventive surgery and chemoprevention
46
Importance of identifying inherited cancer: Early diagnosis and detection
Mammograms and MRI
47
Importance of identifying inherited cancer: Treatment
Surgery and reconstruction, chemo and novel agents
48
Importance of identifying inherited cancer: QOL
Improves post surgery, risk reduction, reproductive health
49
Chemoprevention
-Tamoxifen(Soltamox), used in women with a 5 year risk of 1.67% -Raloxifene (Evista) -Prevents cancer
50
Tamoxifen: Cancer prevention
**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
CYP2C19
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
Ethical legal and social issues
-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
eMERGE
-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
Cardiac and genetic testing
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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