Part 2

Question 1

In Vitro Fertilization

Answer 1

process by which fertilization of an egg by a sperm occurs outside of the body

Question 2

What does the IVF process entail?

Answer 2

step 1: ovulation induction- fertility drugs (gonadotropins: Repronex, Follitism, Gonal, Menopur)
step 2: egg (oocyte) retrieval-retrieved by ultrasound-guided procedure needle is placed through the vagina into ovaries
step 3: fertilization in lab (eggs are analyzed for maturity + incubated, sperm sample collected/examined then injected through intracytoplasmic sperm injection (isci)
step 4: embryo transfer- catheter w/ embroyos+liquid passed through cervix into uterus 3 days after retrieval (6-8) cell stage

Question 3

How long does a zygote take to mature in liquid culture

Answer 3

2-6 days

Question 4

infertility + causes

Answer 4

1 year of attempting to conceive without success where the mother is younger than 35
6 mos of trying in mother 35 older

1. failure to ovulate
2. tubal blockage
3. absence of implantation
4. reduced sperm transport
5. low sperm count

Question 5

advanced maternal age is a risk factor for adverse outcomes

Answer 5

miscarriage

live births with congenital abnormalities

Question 6

what (%) of eggs in women at least 40 yo have genetic problems

Answer 6

75%

Question 7

How long does it take to determine if fertilization has occurred?

Answer 7

18 hours

Question 8

How long does it take to determine if the embryo is growing?

Answer 8

24-72 hours

Question 9

how long do oocytes + embryos stay in the lab during a successful iVF procedure

Answer 9

2-5 days

Question 10

What does blastocyst transfer do?

Answer 10

allows the # of embryos to bw kept at a minimum, reducing chances for multiple births

Question 11

blastocysts

Answer 11

5-6 day old embryos that have advanced 30-60 cells and are transferred 5 days post retrieval

Question 12

2PN
3PN
1PN

Answer 12

embryo grading system (day 2/3- cleavage stage)

1. normally fertilized egg(2 pronuclei)
2. has 3 complete sets of DNA (doesnt get rid of polar body)
3. one gamete is….

Question 13

Pre-Implantation Genetic Diagnosis (PGD)

testing an embryo for a specific disease

Answer 13

diagnosis of a single gene defect (25-50% risk of transmitting illness)

Question 14

Pre-Implantation Genetic (Screening)

testing an embryo for a specific disease

Answer 14

aneuploidy- age, previous miscarriage, repeated IVF fertilizations

this is the term used more frequently by reproductive endocrinologists when discussing

Question 15

aneuploidy

Answer 15

abnormal number of chromosomes

Question 16

embryonic development

Answer 16

1. cleavage stage
2. morula
3. blastocyst
4. hatching
5. implantation

Question 17

etiology

Answer 17

the (set of) causes of a disease

Question 18

inherited diseases/traits based on genomics

Answer 18

1. ovarian
2. breast cancer
3. hemophilia A
4. Duchenne’s muscular dystrophy

Question 19

DNA chemical bases

Answer 19

Adenine–Thymine

Cytosine–Guanine

Question 20

genome/genomics

Answer 20

complete set of DNA/

study of genomes through dna analysis

Question 21

Reproductive genomics

Answer 21

wide array of genetic tests that are conducted with the intent of informing individuals about the possible outcomes of current/future pregnancies

Question 22

National Center for Biotechnology Information (NCBI)

Answer 22

houses databases of biological information and all the sequenced genomes

Question 23

Basic Local Alignment Search Tool (BLAST)

Answer 23

program which can detect sequence similarity between a Query sequence and sequences within a database/assigned sequences

Question 24

BRCA 1/2 genes are located on which chromosomes

Answer 24

17/13

Question 25

for the average woman, what is the lifetime risk for breast cancer? ovarian cancer

Answer 25

12% | 2%

Question 26

BRCA 1/2 can increase these risks for breast cancers? ovarian cancer

Answer 26

36-85% | 20-60%

Question 27

BRCA associated cancer is thought thought to develop in a person with

Answer 27

1 functional copy of a BRCA gene and one mutant copy

Question 28

pedigree charts

Answer 28

diagram showing the genetic history of a family over several generations

Question 29

Polymerase Chain Reaction

Answer 29

molecular diagnostic technique - -diagnosis of genetic/infectious gene - -cancer detection - -forensics - - PGD

Question 30

how does PCR determine sex

Answer 30

amplifying sex specific DNA sequences makes many copies of a particular region key components of reaction are template DNA, primers, nucleotides

Question 31

template dna

Answer 31

double stranded genomic DNA isolated from the cells of the organism being studied the master DNA from which all other strands will be synthesized

Question 32

primers

Answer 32

short pieces of DNA made in a lab 2 primers are designed to match to the segment of DNA you want to copy --one primer attaches to the top strand at one end of segment and one primer to the bottom strand at the other end

Question 33

nucleotides

Answer 33

building blocks that DNA molecules are made of

Question 34

taq ploymerase

Answer 34

naturally ocurring complex of proteins whose function is to copy a cell's DNA b4 it divides into 2

Question 35

how many temperature change cycles does a PCR consist of

Answer 35

20-45 Denaturation, annealing, extension

Question 36

Denaturation

Answer 36

heated to high temperature (94-98 C) melts DNA hydrogen bonds causing split into 2 single strands

Question 37

Annealing

Answer 37

cooled (50-65 C) primers (2) to bind to each of the strands primers=starting point for DNA synthesis

Question 38

Extension

Answer 38

taq polymerase syntesizes a new DNA strand complementary to DNA template by adding free dntps

Question 39

Agarose gel Electrophoresis

Answer 39

technique used to separate the DNA fragments and identify them according to their size

Question 40

agarose

Answer 40

gel composition--> polymerizes to form a solid matrix with microscopic pores

Question 41

phosphate groups

Answer 41

chemical structure--why DNA is able to migrate-negatively charged when the DNA is placed in a solution that is near neutral ph--DNA will migrate towards the postitibve electode smaller fragments travel at a faster rate --further

Question 42

cytogenics

Answer 42

study of chromosomes

Question 43

karyotype

Answer 43

test to identify/evaluate the size, shape and number of chromosomes in a sample body of cells

Question 44

karyotyping

Answer 44

systematic arrangement of chromosome pairs in descending order of size shortest arm orientated toward the top formula: total number of chromosomes, notation of sex chromosomes trisomy male: 47, XY, +18 monosomy female: 45, XX, -22

Question 45

toxicology

Answer 45

studies of the effects of toxins on human health

Question 46

reproductive toxicology

Answer 46

study of how toxins (natural/artificial) impact human reproductive health

Question 47

endocrine disruptors

Answer 47

specific class of toxins which disrupt the endocrine system cause cancerous tumors, fetal growth retardation, severe developmental abnormalitiees such as birth defects

Question 48

examples of breast cancers associated with ED's

Answer 48

breast cancer prostate cancer gliobastoma

Question 49

Long term effects caused by EDs

Answer 49

``` feminizing of males/masculinizing effects on females obesity diabetes infertility abnormal brain developments ```

Question 50

examples of endocrine disruptors

Answer 50

``` polycylic aromatic hydrocarbons DDTS Phytoestrogens Bisphenol A Xennoestrogens ```

Question 51

2 reliable techniques that require culturing mitotic cells , then arresting these cells at the metaphase stage to visualize individual chromosomes

Answer 51

chromosomal preparations | banding

Question 52

2 types of chromosomal abnormalities

Answer 52

1. numerical 2. structural (deletions/gaps) can be both