2.1 MI Study Guide PLTW Flashcards
PSA: 2.1.2 IS NOT IN HERE. Vocab, PCR, Gel Electrophoresis, Genetics, etc...
Genes
A discrete unit of hereditary information consisting of a specific nucleotide sequence
Genetic Councelor
A process of communication that deals with the occurrence or risk that a genetic disorder will occur in a family
Genome
The complement of an organisms genes; an organisms genetic material
Genetic Diseases/Disorders
Health problems cause by abnormalities in a persons DNA
Genetic testing
The use of methods to determine if someone has a genetic disorder, will develop one, or is a carrier
What does a genetic counselor do?
- Collect comprehensive family and medical histories
- Evaluate genetic information
- Discuss testing options
- Educate clients and provide information about genetic risks and inherited conditions
- Provide psychological, emotional, or other support
What is a single gene disorder?
Caused by changes in mutations that occur in a DNA sequence of one gene
What are the different patterns of different single gene disorders?
Autosomal dominant and recessive, and sex linked
How do we predict the likelihood of developing single gene disorders?
By looking at the genotype (pedigree and punnet squares)
What are multifactorial disorders?
Caused by a combination of environmental factors and mutations in multiple genes
What are different multifactorial disorder diseases?
Heart Disease, Breast Cancer, etc
What are chromosomal disorders and how do they occur?
Sine Chromosomes carry genetic information, their can missing/extra copies of genes, or breaks, deletions, or rejoins of chromosomes
How do we diagnose chromosomal disorders?
Karyotypes
How do mitochondrial disorders occur?
Caused by mutations in non-chromosomal DNA of the mitochondria
How is the mitochondrial DNA passed on?
From mother to child
What is carrier screening?
determines whether and individual carries a copy of an altered gene for a particular recessive disease even though they do not show that trait phenotypically
When is carrier screening most often used?
If a particular disease is common in a couples ethnic background or if there is a family history of the disease
How is single gene disorders inherited?
A person inherits one allele from the mother and one allele the father
What is preimplantation genetic diagnosis (PGD)?
Follows in vitro fertilization to diagnose a genetic disease or condition before the embryo is implanted in the uterus
How does PGD work?
1)Stimulate hormones (vitro fertilization)
2)Single cells are sent to be analyzed (looking for chromosome/single gene defects)
What does PGD stand for?
Preimplantation genetic diagnosis
What is newborn screening?
Used to detect genetic or metabolic conditions for which early diagnosis and treatment are made available (shows genotypes)
What is the goal of newborn screening?
To identity affected newborns quickly in order to provide quick treatment and care
Single Gene Recessive Disease example, cause, and affects
Cystic Fibrosis
Causes: A genetic mutation in the cystic Fibrosis transmembrane conductance regulator (CFTR) gene
Affects: Respiratory Tract, and Digestive system
SIngle Gene Dominant Disease example, cause, and affects
Huntington’s Disease
Causes: Mutation in the Htt gene on the chromosome
Affects: Brian movement, mental digression, the breaking down of nerve cells
Single Gene Sex-Linked Disease example, cause, and affects
Duchenne Muscular Dystrophy
Causes: A genetic mutation in the DMD gene
Affects: Wheelchair user, progressive muscle weakness and degeneration
Chromosomal Disease example, cause, and affects
Down Syndrome
Causes: An extra copy of chromosome 21 (created during meiosis/mitosis)
Affects: Intellectual disabilities, Development delays, and physical abnormalities
Multifactoral Disease example, cause, and affects
Alzheimer’s Disease
Causes: Age-related brain change
Affects: Memory Loss, thinking, dementia
Mitochondrial Disease example, causes, and effects
Leber hereditary optic neuropathy
Causes: Mutations in mitochondrial DNA (mtDNA)
Affects: Loss of central vision in both eyes
What is a clinical laboratory scientist?
Works in a lab to help physicians/doctors diagnose other patients. They work with PCR, pipetting, Analytical studying, troubleshooting, and other diagnostic material
What is a SNP?
A single-nucleotide polymorphism is a single base pair variation in the genome sequence
Where are three places a SNP can occur?
1) Non-coding region
2) Regions in between the genes
3) In coding sequences of a gene
How can a SNP affect the organism?
They affect protein production through gene splicing, transcription factor binding
What is PTC and what does it do?
A chemical called phenylthiocarbamide that determines if a person can taste bitterness
What determines the ability to taste PTC?
The receptor protein TAS2R38
PCR Lab Day 1 Purpose
Isolation DNA from cheek cells
PCR Lab Day 2 Purpose
Amplifying DNA by PCR which results in lots of copies of a specific segment of DNA (TAS2R38)
PCR Lab Day 3 Purpose
Added restriction enzymes to cut DNA to differentiate SNP’s of the TAS2R38 gene and to see if the SNP was present
Which Genotype will cut in wont cut in a Taster (T) or Nontaster (t)
T- will cut
t- will not cut
PCR Lab Day 4 Purpose
To see the separation of DNA fragments by Gel Electrophoresis based on the size
Which directions does DNA pull towards in Gel Electrophoresis
DNA is negatively charged so it is pulled towards the positively charged end.
PCR Lab Day 1 Possible Errors
-Lab Procedure Changes (Positive)
-Disturb DNA pellet (Negative)
-Micropipette Error (Neutral/Negative)
PCR Lab Day 2 Possible Errors
-Micropipette Error (Neutral/Negative)
PCR Lab Day 3 Possible Errors
-Micropipette Error (Neutral/Negative)
-Sample Mistake (Restriction Enzyme) (Negative)
PCR Lab Day 4 Possible Errors
-Gel Load Error (Negative)
-Micropipette Error (Neutral/Negative)
PCR Steps
1) Denaturation
2) Annealing
3) Extension
What happens during Denaturation in PCR?
Takes double stranded DNA and breaks it down the middle to create single strands (heated to 94 Celsius)
What happens during the Annealing stage in PCR?
Adds primers to the start and end of a gene to bookend or target sequence to be copied (Cooled to 64 Celcius)
What happens during the Extension stage of PCR?
Using TAQ polymerase to add free nucleotides to template stands (Raised to 72 Celsius)
Why is TAQ polymerase used in PCR?
Can withstand High heat which Is needed during PCR due to the temperature changes needed in order to perform all 3 steps of PCR
At the end of PCR how many copies would you have? (formula)
2^(num. of cycles)
What is the size of the TAS2R38 Gene (PTC tasting gene)?
221bp
If someone has the genotype of TT where are the fragments in a Gel Electrophoresis?
177bp and 44bp
If someone has the genotype of tt where are the fragments in a Gel Electrophoresis?
221bp
If someone has the genotype of Tt where are the fragments in a Gel Electrophoresis?
221bp, 177bp and, 44bp
If someone has only 1 fragment at 177bp on a Gel Electrophoresis what genotype can you determine from their results?
You can say they are TT because as long as it cuts once you know that have the T-Taster gene
What does the undigested sample tell us in the PCR Lab?
Undigested Tells us if PCR was preformed correctly on the correct gene/segment of DNA.
Day 1: What was the supernatant?
Cheek cells and saline solution
Day 1: What is the purpose of the lysis buffer?
Allows for the cheek cells to separate in the buffer
Day 1: What is the DNA pellet
The DNA from our cheek cells
What are some routine tests done during pregnancy?
-Urinalysis
-Glucose Screenings
-Physical Exams
-Blood Tests
-Fetal Heartbeat
-Blood Pressure
What are abnormal results for routine checks during pregnany?
-UTI/Kidney Infection
-Gestational Diabetes
-Anemia
-High BP
-Extreme nausea/dizziness
What should you DO during Pregnancy?
-Go to routine checks
-Safe Pregnancy Exercising
-Sleep
-Drink Water
-Check Medications
-Take Vitamins
-Eat Enough to support both you and the baby
What should you NOT DO during pregnancy?
-Smoking
-Drinking
-Consuming Raw fish
-X-Rays
-Drugs
-Consume Caffeine
What is Maternal Serum Testing (1st Trimester) and what is involved?
Measured levels of human gonadotropin (hCG), (Pregnancy Hormones) and pregnancy associated plasma protein A (PAPP-A) in the mothers blood. This test is taken from a blood sample and usually and ultrasound scan.
Is Maternal Serum Testing (1st Trimester) a Screening or Diagnostic Test?
Screening test
What is Maternal Serum Testing (2nd Trimester) and what is involved?
Testing the amount of Alpha Protein (AFP). These results would show if a baby has down syndrome or neural tube defects. This test is preformed through a blood test
Is Maternal Serum Testing (2nd Trimester) a Screening or Diagnostic Test?
Screening Test
What is a NT-UltraSound (1st Trimester) and what is involved?
A Nuchal translucency ultrasound that measures that amount of fluid in the back of the fetus neck which is measured by the thickness of the space filled behind the fetuses neck.
Is a NT-UltraSound (1st Trimester) a screening or diagnostic test?
Screening
What is an anatomy ultrasound and what is involved?
An anatomy ultrasound is a medical test that uses sound waves to create images of the baby’s organs and structures while in the womb which tests the baby’s size and overall health
Is a anatomy ultrasound a screening or diagnostic test?
Screening
What is a Cell Free DNA Analysis test and what is involved?
A blood test that screens for chromosomal abnormalities in the fetus and it preformed through testing a blood sample.
Is a Cell Free DNA Analysis a screening or diagnostic test?
Screening
What is an Amniocentesis test and what is involved?
A medical procedure that removes a small amount of liquid that surrounds and protects the fetus and is tested for genetic/ chromosomal conditions, and other physical abnormalities. This is preformed using an ultrasound and a needle to extract the fluid
Is Amniocentesis a screening or diagnostic test?
Diagnostic
What is a Chorionic Villus test and what is involved?
Testing for chromosomal conditions and takes a small sample of cells from the placenta using a needle put through the cervix and into the placenta
Is the Chorionic Villus a screening or diagnostic test?
Diagnostic
