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Human Reproduction > Part 2 > Flashcards

Part 2 Flashcards

1
Q

In Vitro Fertilization

A

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

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2
Q

What does the IVF process entail?

A

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

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3
Q

How long does a zygote take to mature in liquid culture

A

2-6 days

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4
Q

infertility + causes

A

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
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5
Q

advanced maternal age is a risk factor for adverse outcomes

A

miscarriage

live births with congenital abnormalities

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6
Q

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

A

75%

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7
Q

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

A

18 hours

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8
Q

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

A

24-72 hours

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9
Q

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

A

2-5 days

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10
Q

What does blastocyst transfer do?

A

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

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11
Q

blastocysts

A

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

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12
Q

2PN
3PN
1PN

A

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….
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13
Q

Pre-Implantation Genetic Diagnosis (PGD)

testing an embryo for a specific disease

A

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

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14
Q

Pre-Implantation Genetic (Screening)

testing an embryo for a specific disease

A

aneuploidy- age, previous miscarriage, repeated IVF fertilizations

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

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15
Q

aneuploidy

A

abnormal number of chromosomes

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16
Q

embryonic development

A
  1. cleavage stage
  2. morula
  3. blastocyst
  4. hatching
  5. implantation
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17
Q

etiology

A

the (set of) causes of a disease

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18
Q

inherited diseases/traits based on genomics

A
  1. ovarian
  2. breast cancer
  3. hemophilia A
  4. Duchenne’s muscular dystrophy
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19
Q

DNA chemical bases

A

Adenine–Thymine

Cytosine–Guanine

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20
Q

genome/genomics

A

complete set of DNA/

study of genomes through dna analysis

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21
Q

Reproductive genomics

A

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

22
Q

National Center for Biotechnology Information (NCBI)

A

houses databases of biological information and all the sequenced genomes

23
Q

Basic Local Alignment Search Tool (BLAST)

A

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

24
Q

BRCA 1/2 genes are located on which chromosomes

A

17/13

25
Q

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

A

12%

2%

26
Q

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

A

36-85%

20-60%

27
Q

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

A

1 functional copy of a BRCA gene and one mutant copy

28
Q

pedigree charts

A

diagram showing the genetic history of a family over several generations

29
Q

Polymerase Chain Reaction

A

molecular diagnostic technique

  • -diagnosis of genetic/infectious gene
  • -cancer detection
  • -forensics
    • PGD
30
Q

how does PCR determine sex

A

amplifying sex specific DNA sequences makes many copies of a particular region

key components of reaction are template DNA, primers, nucleotides

31
Q

template dna

A

double stranded genomic DNA isolated from the cells of the organism being studied

the master DNA from which all other strands will be synthesized

32
Q

primers

A

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

33
Q

nucleotides

A

building blocks that DNA molecules are made of

34
Q

taq ploymerase

A

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

35
Q

how many temperature change cycles does a PCR consist of

A

20-45

Denaturation, annealing, extension

36
Q

Denaturation

A

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

37
Q

Annealing

A

cooled (50-65 C) primers (2) to bind to each of the strands

primers=starting point for DNA synthesis

38
Q

Extension

A

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

39
Q

Agarose gel Electrophoresis

A

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

40
Q

agarose

A

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

41
Q

phosphate groups

A

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

42
Q

cytogenics

A

study of chromosomes

43
Q

karyotype

A

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

44
Q

karyotyping

A

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

45
Q

toxicology

A

studies of the effects of toxins on human health

46
Q

reproductive toxicology

A

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

47
Q

endocrine disruptors

A

specific class of toxins which disrupt the endocrine system

cause cancerous tumors, fetal growth retardation, severe developmental abnormalitiees such as birth defects

48
Q

examples of breast cancers associated with ED’s

A

breast cancer
prostate cancer
gliobastoma

49
Q

Long term effects caused by EDs

A 
feminizing of males/masculinizing effects on females
obesity
diabetes
infertility
abnormal brain developments
50
Q

examples of endocrine disruptors

A 
polycylic aromatic hydrocarbons 
DDTS
Phytoestrogens
Bisphenol A 
Xennoestrogens
51
Q

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

A

chromosomal preparations

banding

52
Q

2 types of chromosomal abnormalities

A
  1. numerical
  2. structural (deletions/gaps)

can be both

Human Reproduction (3 decks)

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