Unit 2 Lesson 1 Flashcards
Polymerase Chain Reaction, Pre-natal testing, Genetic Disorders
The Basic unit of heredity passed on from parents to their children.
Gene.
A large project that maps and sequences al the genes of a human genome.
Human Genome Project.
What is the structure of a gene?
A gene is comprised of DNA strands, which have different nucleotides. (A,C,T, and G)
What is the difference between autosomal and sex-linked?
Sex- linked refers to your 23 chromosome where your X and Y chromosomes are. Autosomal is the other 22.
What is the purpose of PCR in biology.
To make millions of copies of a target sequence of DNA. This allows scientists to study that particular segment and what it codes for.
DNA _________ acts as an ______ and adds nucleotides to the growing DNA Chain during PCR.
polymerase; enzyme
Separating DNA strands is called
Denaturation
Primer bonding to the template is called
Annealing
DNA polymerase synthesizing new strands is called
Extenstion
What do restriction enzymes do? Why are the important to an individual?
Restriction enzymes cut DNA segments at restriction sites. For certain genes, where they cut, or if they cut at all, can tell you wether or not you have a certain genotype.
What is a SNP?
Single Nucleotide Polymorphisms. They are what make you unique. The variation in your DNA.
What is the purpose of a prenatal screening? How does that differ from a diagnostic test?
A prenatal screening test can tell you the risk of the fetus having a genetic disorder. The Diagnostic test is a definitive answer.
What is an amniocentesis? What is the purpose of it?
Amniocentesis is a test done on a pregnant person to test if their fetus has a genetic disorder. A small sample is taken of the amniotic fluid from the uterus and it is tested.
What risks does it carry?
Miscarriage, uterine infection, damage to the fetus. (done between 15-20 weeks)
What is chorionic villus sampling? When is it performed?
CVS is a small sample taken from the placenta to test for genetic disorders. It is done in the first trimester (10-13 weeks)
What is a fetal ultrasound?
It is a non-invasive procedure that allows for a medical professional to see the fetus, amniotic fluid, and placenta. This is to assure that the pregnancy is going smoothly.
What does the triple or quad screen typically asses?
It typically assess certain proteins in the mothers blood (AFP, hCG). It is done in second trimester.
Know the difference between single gene, chromosomal, mitochondrial, and multi factorial diseases.
Gene: mutation in a specific Gene
Chromosome: Abnormality in a chromosome
Mitochondrial: Mutation in the Mitochondria of DNA
Multifactorial: Combination of issues in multiple genes due to the environment.
Provide Examples of each.
Gene: Cystic Fibrosis, sickle cell
Chromosome: Trisomy 13, down syndrome
Mitochondrial: Kearns- Sayre syndrome, Mitochondrial encephalopathy lactic acidosis, and stroke episodes (MELAS)
Multifactorial: Coronary Artery, non-alcoholic fatty liver disease.
What happens in a nuchal translucency test
fluid is taken from the fetuses neck and tested for genetic disease.
What are the three invasive prenatal tests?
Aminocentisis, Chronic Villus sampling, and Nuchal translucency
How many fragments are in a digested strand of DNA?
One more than the amount of restriction sites
What about undigested DNA? How would that translate into bands you would see on gel electrophoresis?
You would see one band on the gel because the DNA hasn’t been broken into smaller fragments, which move fastest.
