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KSUCPM MEDICAL GENETICS > LECTURE II > Flashcards

LECTURE II Flashcards

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1
Q

describe the process of spermatogenesis?

A

spermatogonium to secondary spermatocyte after mitosis and meiosis then to the spermatid after meiosis II and then differentiation to sperm

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2
Q

what are the stages in oogenesis?

A

oogonium
primary oocyte
secondary oocyte
ovum

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3
Q

in oogenesis, we start with the primordial germ cell in embryo which differentiates into?

A

oogonium

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4
Q

in this part of oogenesis, there is the differentiation of the oogonium and onset of meiosis I to produce?

A

primary oocyte

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5
Q

in this stage of oogenesis, the primary oocyte undergoes completion of meiosis I and the beginning of meiosis II to produced?

A

secondary oocyte and the first polar body

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6
Q

when the secondary oocyte undergoes ovulation, what is then produced?

A

ovum and the second polar body

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7
Q

this gene is required for ovarian development and its expression inhibits SOX9 activity?

A

DAX1

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8
Q

this gene is located on the Y chromosome and its expression inhibits DAX1 activity?

A

SRY

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9
Q

we on chromosome 9, XY sex reversal with loss of this gene?

A

DMRT1

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10
Q

this male hormone aids in the development of the penis and prostate but expression of androgen receptors must happen first

A

DHT

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11
Q

this region of the chromosome is present in XX males and deleted in XY females?

A

Yp pseudoautosomal region

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12
Q

what are the three phases of spermatogenesis?

A

spermatogenial
spermatocyte
spermatid

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13
Q

these cells nourish developing sperm

A

sertoli cells

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14
Q

these cells secret androgen (testosterone)

A

leydig cells

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15
Q

outside tubules produce testosterone

A

interstitial cells

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16
Q

what part of the endometrium sloughs off?

A

stratum functionalis of the endometrium, the other part, stratum basalis of the endometrium

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17
Q

in the stages of Oogenesis, this is arrested in prophase of meiosis I and present at birth?

A

primary oocyte, however completion of meiosis I and the onset of meiosis II leads to the formation of the secondary oocyte arrested at metaphase II

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18
Q

when is meiosis II completed?

A

ovulation

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19
Q

these cells make androgen?

A

theca cells

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20
Q

these cells convert those androgens into estradiol and estrogen?

A

granulosa cells

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21
Q

how many ovum are ovulated?

A

1

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22
Q

this hormone favors pregnancy?

A

progesterone

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23
Q 
this hormone induces:
estrus 
corticosterone 
cortisol
aldosterone
A

estrogen

24
Q

this type of contraception:
suppression of FSH- no dominant follicle

increase in progesterone-reduced progesterone dose

decreases likelihood of implantation

feedback inhibition of GnRH, FSH and LH release

A

continuous high estrogen

25
Q

prevents ovulation by suppressing LH surge

thickens cervical mucus

decreases likelihood of implantation

feedback inhibition of GnRH, FSH, and LH release

A

continuous high progesterone

26
Q

high dose of progesterone or high dose progesterone and estradiol-no ovulation

A

morning after pill

27
Q

Mifepristone or RU 486 blocks the activity of progesterone

effective up to week nine

decidual degeneration

reduced hCG

A

RU-486

28
Q

in the male reproductive life cycle changes, what are the stages of the cycle?

A

embryonic
prepubertal birth
pubertal
post pubertal

29
Q

in the male reproductive life cycle changes, this happens during what stage?

response to testosterone

receptors for testosterone must be present on tissue

A

embryonic

30
Q

in the male reproductive life cycle changes, this happens during what stage?

at birth, testosterone decreases to undetectable levels at about one week

testosterone and LH increase in males from 1-6 months

at 7 months, testosterone falls to insignificant levels and stays there until puberty

A

prepubertal birth

31
Q

in the male reproductive life cycle changes, this happens during what stage?

decrease in melatonin

decreased feedback sensitivity of gonadotropin-gonadostatin, increased GnRH secretion, increased pituitary cell sensitivity to GnRH

increased LH:FSH in response to GnRH, increased Leydig cell sensitivity to LH: increased testosterone synthesis and cessation of division, activation of Sertoli cells

sequential development of testes and secondary sex characteristics

stimulation of spermatogenesis and spermiogenesis

A

Pubertal

32
Q

in the male reproductive life cycle changes, this happens during what stage?

tonic hypothalamic center controls more or less continuous release of FSH and LH

testes provide more or less continuous synthesis of testosterone

add to adrenal produced testosterone 33% higher than female

gradual decline of testicular function and test levels from around age 40-45

A

post-pubertal

33
Q

what are the stages in the female reproductive life cycle changes?

A 
embryonic
pre-pubertal
pubertal
post-pubertal
peri-and post-menopause
34
Q

in the female reproductive life cycle changes, this happens during what stage?

differentiation occurs in the absence of increased test levels

estrogen required for full differentiation and development of uterus and vagina

A

embryonic

35
Q

in the female reproductive life cycle changes, this happens during what stage?

low levels of estrogen throughout childhood

increasing levels in late childhood leads to ovarian development

high sensitivity of the negative feedback effect of gonadal steroids

A

pre-pubertal

36
Q

in the female reproductive life cycle changes, this happens during what stage?

reduction of sensitivity of the negative feedback effect of gonadal steroids-gonadostat hypothesis

A

pubertal

37
Q

in the female reproductive life cycle changes, this happens during what stage?

cyclic hypothalamic center controls periodic surges of LH and FSH

progressive shortening of menstrual cycle with increasing age-follicular phase

A

post pubertal

38
Q

in the female reproductive life cycle changes, this happens during what stage?

around age 45, shortening of the follicular phase with increase in FSH at mid cycle surge

estradiol secretion from ovary progressively declines

other tissue maintain estrogen levels

menopausal symptoms due to estrogen deficiency

A

peri- and post- menopause

39
Q

in mitosis, the life cycle of somatic cells, what phase does DNA synthesis occur?

A

S phase

40
Q

what phase of mitosis is the cell in listed below?

RNA and protein synthesis
cell growth
nucleus growth

A

G1 phase

41
Q

what phase of mitosis is the cell in listed below?

DNA synthesis
histone synthesis
centriole duplicates

A

S phase

42
Q

what phase of mitosis is the cell in listed below?

multiplication of cell organelles
cell growth
nucleus growth
biochemicals for m-phase

A

G2 phase

43
Q

what phase of mitosis is the cell in listed below?

PMAT (Karyokinesis) and cytokinesis

A

M-phase

44
Q

how is progression through parts of the cell cycle affected?

A

via specific cyclins

45
Q

this cyclin triggers cells to move from G0 to G1 and from G1 into S phase?

A

cyclin D

46
Q

this cyclin prepares the cell for DNA replication in the S phase?

A

Cyclin E

47
Q

this cyclin activates DNA replication inside the nucleus in the S phase?

A

Cyclin A

48
Q

this cyclin promotes the assembly of the mitotic spindle and other tasks in the cytoplasm to prepare for mitosis?

A

Cyclin B

49
Q

purpose of meiosis?

A

reduction of the number of chromosomes from diploid to haploid

reassortment of paternal and maternal chromosomes

redistribution of maternal and paternal genes through translocation

50
Q

what are the different types of chromosomal abnormalities/aberrations?

A

numerical and structural

51
Q

Euploidy, Aneuploidy, XXY, Triploidy, Tetrapolidy are what kinds of chromosomal aberrations?

A

Non-disjunction

52
Q

what are specific diseases due to Aneuploidy?

A

Klinefelter syndrome (47,XXY;48,XXYY)
(48,XXXY;49,XXXXY)
Turner Syndrome (45,XO)
Trisomy 21

53
Q

what are the types of abnormal structures or gene arrangement on one or more chromosomes?

A

balanced rearrangements

unbalanced rearrangements

54
Q

these are the characteristics for what type of structural abnormality?

individual with balanced rearrangement has a full complement of genetic information

may be no phenotypic abnormalities

may not be detected until progeny show abnormalities

A

Balanced rearrangements

55
Q

these are the characteristics for what type of structural abnormality?

phenotypic abnormalities are likely due to deletions or duplications

frequent fetal abnormalities

duplications=partial trisomy
deletions=partial monosomy

A

unbalanced rearrangments

KSUCPM MEDICAL GENETICS (23 decks)

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