unit 2 test Flashcards
sex linked disorder
inherited through one of the sex chromosomes
autosomal dominant
one gene causes a mutated gene
autosomal recessive
two genes causes a mutation
chromosomal
genetic disorder develops bc of a mutation in the genes
mitochondrial
inherited through the mom, something wrong with the mitochondria’s in the cell
mulitfactoral
when one or more factors cause the genetic disorder. environmental and genetic usually
what disorder is cystic fibrosis
autosomal recessive
what disorder is deschene muscular dystrophy
sex linked
what disorder is down syndrome
chromosomal
what disorder is huntingtons
autosomal dominant
what disorder is Alzheimer’s
multifactorial
what disorder is leber optic neuropathy
mitochondrial
what carries modified genetic material, and what do you look for to make sure it’s a good fit
a vector
you look for: size, will it trigger an immune response, host cell genome integration, and nucleic acid type
what is amniocentesis
takes amniotic fluid and uses it for genetic testing. invasive and done during second trimester to test for genetic, fetal, and diagnostic testing
what are hCG and PAPP-A blood tests?
first trimester noninvasive blood tests that detect for elevated levels of hCG and PAPP-A to detect chromosomal abnormalities
what is carrier screening
determins whether or not an individual carries a change in one of their genes and if they are at increased risk of passing it on to their child. noninvasive and done before pregnancy
what is newborn screening
noninvasive blood tests that screen for health disorders that arent found during prenatal testing
what is CVS
chronic villus sampling is an invasive test where a tissue sample of the placenta is taken and used to test for chromosomal abnormalities. can be done with a catheter through the cervix or a needle through the stomach. done in first trimester
what is nuchal translucency ultrasound testing
done during first trimester and involves noninvasive blood tests and ultrasounds. it screens for down, Edwards, trisomony 13, and defects.
anatomy ultrasound
done during second trimester, noninvasive, and checks for fetal development of organs and body parts. images are taken and can detect for certain defects.
what is karyotype testing?
an examination of chromosomes in a sample of cells. can identify genetic problems by looking at an image of the chromosomes and finding the source of a disease or disorder. is done by taking a sample of fetal material which is invasive
what is preimplantation genetic diagnosis
it’s the determination of genetic abnormalities in the embryo before it is inserted into the uterus. it’s known to help reduce chances of a genetic defect and analyze chromosomes and identify an embryo’s that have a greater chance of surviving.
what are the 3 cycles of PCR and define what happens in each
denaturation: DNA strands separate
annealing: primers attach on each end of the target sequence
extension: taq polymerase adds complementary bases to build the new DNA strands
what is isolating DNA?
involves extracting cells and treating cells to get the DNA
what is amplifying DNA
to make a ton of copies of the DNA
what is restriction analysis
to make cuts into the DNA strands and chop it into different sized pieces
what is gel electrophoresis
to examine the lines within the gel in order to analyze our results
what is a dNTP
deoxynucleotide triphosphate: used for building block of DNA sythesis
what is a primer
short nucleic acid sequence that provides a starting point for DNA synthesis
what is taq polymerase
a catalyst involved in the attachment of nucleotide to synthesize DNA
what is a buffer
a solution that resists change in DNA
what is a kayotype, how are cells obtained, and what can it tell
a display of chromosomes, done by taking a sample of amniotic fluid, can tell the risk of passing on a genetic disorder and help identify the cause of a genetic disorder
what is CRISPR, how does it work, and why are scientists excited about it
a system that can be used to target specific DNA codes and edit them at precise locations. it temporarily unwinds the DNA in order to find the target sequence, binds to the DNA, cuts it, inserts a new code into the DNA. they’re hopeful because it can fix faulty genes in someone with a genetic disease
what binds to the dna in CRISPR, cuts it, and shuts the gene off
cas 9
what acts as a guide to find the faulty gene
the guide RNA
what is gene therapy and what is taken into consideration if it could be a good treatment for someone
the alteration of genes of a person afflicted with a genetic disease
-does the mutation occur on one or more genes
-will adding a normal gene fix the issue
-can you get the gene to the cells of the issue area
for a pregnant woman of advanced maternal age, what are some common problems and what are some screening and diagnostic tests that can help them?
some issues they may fave include miscarriage, congenital disorders, and high blood pressure. tests that are available to help them include: CVS and amniocentesis, some blood tests, and ultrasounds.
why is CF a good target for gene therapy?
because it’s only one faulty gene and is easily accessible.
