Genetic Disorders
What is the type of disorder where mutations occur in the DNA sequence of one gene?
Single Gene
What genetic test determines whether an individual carries a copy of an altered gene for a particular recessive disease even though they do not show the trait?
Carrier Screening
What does Autosomal mean?
Occurring on chromosome pairs 1-22 (non-gender identifying)
What does CVS sample and when can it be done?
Placenta and 1st trimester
What are the 3 phases of PCR?
Denaturation, annealing, extension
What are the 3 strategies in Gene therapy?
Repair, Insert, Disable (RID)
What are disorders caused by a combination of environmental factors and mutations in multiple genes?
Multifactorial
Which genetic test is used following in vitro fertilization to diagnose a genetic disease or condition before the embryo is implanted in the uterus?
PGT- Preimplantation Genetic Testing
What does Recessive mean?
Non-dominant: need two copies to express it, one from each parent
What does an amniocentesis test?
Amniotic fluid
What machine do we use for PCR?
Thermal Cycler
What do we typically use as vectors during gene therapy?
Viruses
What genetic disorder type occurs when there are missing or extra copies of genes, and includes breaks or deletions in DNA?
Chromosomal
Which type of genetic testing allows parents to diagnose a genetic condition in their developing fetus?
Fetal screening
What is a karyotype?
Visual display of chromosomes for comparison and analysis
What is a cell-free Fetal DNA analysis?
Blood test that looks for cell-free DNA in the mother's blood which comes from the placenta and generally reflects the genetic makeup of the developing baby (fetus).
What is the name of the enzyme that "sits on the empty nucleotide seats" and extends the DNA strands?
Taq Polymerase
Name at least 2 criteria that we look at to choose the right vector?
How much DNA it can carry, cell specificity, integration into host cell, efficiency, does it cause an immune response
Which genetic disorder type is unique in that it is passed solely from mother to child?
Mitochondrial
What type of genetic testing is used to detect genetic or metabolic conditions for which early diagnosis and treatment right after the baby is born?
Newborn screening
What does Genotype mean?
Both alleles for a particular gene that was passed down from both parents. GG, Gg, gg
How does an ultrasound work?
Uses sound waves to make images in real-time.
What does the TAS2R38 gene code for?
Bitter-tasting gene- allows you to taste bitter things
What is at least one thing we look at when picking a disease or disorder to use Gene Therapy on?
What is the term for a genetic mutation where one nucleotide is not what it should be?
SNP- Single Nucleotide Polymorphism
What is the main reason we use PCR?
To amplify DNA, make millions of copies
What is phenotype?
How a particular gene is expressed in you: Brown hair, freckles, having sickle cell disease
What is a GTT?
Glucose tolerance test- checks for gestational diabetes
What does in-vivo mean?
Taking place inside an organism
What is CRISPR?
A gene editing tool that refers to the short, palindromic repeated DNA sequences found in the genome of bacteria that enables scientists to change the DNA of animals, plants, and microorganisms with precision.