Intro to Cytogenetics Flashcards

1
Q

What is the most important phase of mitosis in cytogenetics?

A

metaphase

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2
Q

What are the two critical phases in meiosis?

A
  • recombination which occurs in prophase I

- reduction division (anaphase I)

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3
Q

what is reduction division?

A

reduction by 1/2 of the original number of chromosomes

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4
Q

what is crossover?

A

exchange between homologous chromosomes resulting in a reassortment of the genes/alleles present on each chromosome

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5
Q

During meiosis II how many chromosomes does each daughter cell get? are there pairs?

A

23; no

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6
Q

What is the net result of nondisjunction that occurs in meiosis I and not in meiosis II?

A

4 cells with a chromosomal imbalance

-2 disomic gametes and 2 nullsomic gametes

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7
Q

What is nullsomic?

A

cells that are missing chromosomes

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8
Q

gametogenesis (includes spermatogenesis and oogenesis ) are a combination of

A

mitosis and meiosis

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9
Q

How many functional gametes are produced at the end of spermatogenesis?

A

primary germ cells–>spermatocytes via mitosis

4 per spermatocyte

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10
Q

How many functional gametes are produced at the end of oogenesis?

A

primary germ cells–>oocytes via mitosis

1 per oogonia

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11
Q

Why don’t oocytes become ovum until ovulation?

A

primary oocytes are formed by 3rd month of gestation, reach prophase I and pause until ovulation

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12
Q

Why is there only one functional oocyte formed?

A

at the completion of meiosis I, two daughter cells are produced one secondary oocyte and one polar body

after meiosis 2, you get one ovum and one polar body

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13
Q

What is the difference between a secondary oocyte and a polar body?

A

secondary oocyte received most of the cytoplasm and will go on to become an ovum

polar body didn’t get much cytoplasm and will go on to degenerate or produce 2 more polar bodies

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14
Q

When is meiosis completed in the female?

A

during fertilization

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15
Q

What prompts the fusion of the male and female pronuclei?

A

penetration of sperm head and release of second polar body

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16
Q

Describe the differences in the frequency of gamete production in males and females.

A

Males: primary spermatocytes produced throughout life; gametes produced continuously
4 equal gametes per gametocyte

females: all primary oocytes present at birth
gametes made once a month
1 gamete per gametocyte

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17
Q

Which sex is homogametic and which is heterogametic?

A

females; males

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18
Q

What is the TDF?

A

testis determining factor

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19
Q

What is SRY

A

sex determining region og Y

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20
Q

What is the pseudoautosomal region of Y?

A

region on the short arms of the X and Y chromosomes that engages in recombination

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21
Q

What is the default sexual development? what triggers it?

A

female; absence of TDF/SRY

22
Q

What does presence of TDF/SRY do?

A

leads to differentiation of gametocytes to testes and inhibition of Mullerian ducts–>degeneration of Mullerian ducts

proliferation of Wolffian ducts

23
Q

Are the protein produced by TDF initiates the male developmental pathway the only factors determining sex?

24
Q

Is it possible to have functional TDF/SRY with a female genotype?

A

yes; there are also males with XX and females with XY;

25
Why are females not at a deficit because they have no Y chromosome?
The genes present on the Y chromosome seem to be primarily involved with male characters, so females are not negatively impacted
26
Why are males not at a deficit because they only have one X chromosome?
males and females get the same enzyme production from X linked genes because of X inactivation.
27
What is the Lyon hypothesis?
- for determination of a normal female, there must be 2 active X chromosomes - they inactivate 3-7 days after fertilization - inactivation is random, but irreversible in somatic tissues
28
What is the result of X-inactivation?
dosage compensation
29
What is dosage compensation
equalization of the amount of active genetic material
30
somatic mosaicism
heterozygous females have subpopulations of cells within their bodies. some of the x chromosomes will be the mother's and some will be the father's
31
non-random X inactivation
deletion or damage to one of the X chromosomes can lead to a change in the inactivation patterns
32
How can non-random X inactivation cause clinical problems?
If a female is a carrier for X linked disease and her normal chromosome is damaged, then the abnormal chromosome will be expressed and she may manifest some disease symptoms
33
Describe the mechanism of X inactivation
-epigenetic (no gene mutations occur)
34
Where does methylation of X begin?
-methylation initiated at XIST
35
What sites escape inactivation?
pseudoautosomal and others
36
Is methylation reversible?
No; inactive X must be reactivated at meiosis so that all gametes will have an active X
37
How often do conceptuses have chromosomal abnormality? How often are born alive?
1/13; 6/1000
38
T or F: the body recognizes most errors in chromosomes and they are spontaneously eliminated
true
39
What should you do if an infant presents with the signs or symptoms of a defined syndrome?
karyotype analysis may confirm chromosomal anomaly.
40
What are the two major types of chromosomal anomalies? Describe them.
Numerical: change in the total number of chromosomes of the set Structural: change in the size or shape of one or more chromosomes
41
How do we identify chromosomal abnormalities?
look during metaphase for: - size - position of centromere - banding pattern
42
What is the most common specimen used for karyotyping? What are others?
blood; bone marrow-->oncology; amniotic fluid and chorionic villi
43
p arm
shorter of two arms of a chromosome
44
q arm
longer of two arms of a chromosome
45
metacentric
centromere is equidistant from both ends
46
submetacentric
closer to one end than the other
47
acrocentric
modified short arms containing a stalk with copies of rRNA
48
How is the total loss of telomeres thought to be partially responsible for aging?
mechanics of DNA replication are such that not all the telomere DNA can be replicated at each division so there is a shortening of telomeres over time
49
ideogram
representation of each pair of chromosomes that has a unique band pattern
50
chromosome polymorphism
presence of two or more alternative structural forms for a chromosome within a population mendelian characters can be traced through pedigrees