unit 2 test

Question 1

sex linked disorder

Answer 1

inherited through one of the sex chromosomes

Question 2

autosomal dominant

Answer 2

one gene causes a mutated gene

Question 3

autosomal recessive

Answer 3

two genes causes a mutation

Question 4

chromosomal

Answer 4

genetic disorder develops bc of a mutation in the genes

Question 5

mitochondrial

Answer 5

inherited through the mom, something wrong with the mitochondria’s in the cell

Question 6

mulitfactoral

Answer 6

when one or more factors cause the genetic disorder. environmental and genetic usually

Question 7

what disorder is cystic fibrosis

Answer 7

autosomal recessive

Question 8

what disorder is deschene muscular dystrophy

Answer 8

sex linked

Question 9

what disorder is down syndrome

Answer 9

chromosomal

Question 10

what disorder is huntingtons

Answer 10

autosomal dominant

Question 11

what disorder is Alzheimer’s

Answer 11

multifactorial

Question 12

what disorder is leber optic neuropathy

Answer 12

mitochondrial

Question 13

what carries modified genetic material, and what do you look for to make sure it’s a good fit

Answer 13

a vector

you look for: size, will it trigger an immune response, host cell genome integration, and nucleic acid type

Question 14

what is amniocentesis

Answer 14

takes amniotic fluid and uses it for genetic testing. invasive and done during second trimester to test for genetic, fetal, and diagnostic testing

Question 15

what are hCG and PAPP-A blood tests?

Answer 15

first trimester noninvasive blood tests that detect for elevated levels of hCG and PAPP-A to detect chromosomal abnormalities

Question 16

what is carrier screening

Answer 16

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

Question 17

what is newborn screening

Answer 17

noninvasive blood tests that screen for health disorders that arent found during prenatal testing

Question 18

what is CVS

Answer 18

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

Question 19

what is nuchal translucency ultrasound testing

Answer 19

done during first trimester and involves noninvasive blood tests and ultrasounds. it screens for down, Edwards, trisomony 13, and defects.

Question 20

anatomy ultrasound

Answer 20

done during second trimester, noninvasive, and checks for fetal development of organs and body parts. images are taken and can detect for certain defects.

Question 21

what is karyotype testing?

Answer 21

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

Question 22

what is preimplantation genetic diagnosis

Answer 22

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.

Question 23

what are the 3 cycles of PCR and define what happens in each

Answer 23

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

Question 24

what is isolating DNA?

Answer 24

involves extracting cells and treating cells to get the DNA

Question 25

what is amplifying DNA

Answer 25

to make a ton of copies of the DNA

Question 26

what is restriction analysis

Answer 26

to make cuts into the DNA strands and chop it into different sized pieces

Question 27

what is gel electrophoresis

Answer 27

to examine the lines within the gel in order to analyze our results

Question 28

what is a dNTP

Answer 28

deoxynucleotide triphosphate: used for building block of DNA sythesis

Question 29

what is a primer

Answer 29

short nucleic acid sequence that provides a starting point for DNA synthesis

Question 30

what is taq polymerase

Answer 30

a catalyst involved in the attachment of nucleotide to synthesize DNA

Question 31

what is a buffer

Answer 31

a solution that resists change in DNA

Question 32

what is a kayotype, how are cells obtained, and what can it tell

Answer 32

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

Question 33

what is CRISPR, how does it work, and why are scientists excited about it

Answer 33

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

Question 34

what binds to the dna in CRISPR, cuts it, and shuts the gene off

Answer 34

cas 9

Question 35

what acts as a guide to find the faulty gene

Answer 35

the guide RNA

Question 36

what is gene therapy and what is taken into consideration if it could be a good treatment for someone

Answer 36

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

Question 37

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?

Answer 37

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.

Question 38

why is CF a good target for gene therapy?

Answer 38

because it's only one faulty gene and is easily accessible.