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Anatomy > Genetics > Flashcards

Genetics Flashcards

1
Q

Chromosome

A

A DNA molecule + associated proteins

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2
Q

Telomeres

A

Multiple repeats of the 6 nucleotide sequence found at the end of chromosomes

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3
Q

Centromeres

A

Area of the chromosome that the kinetochore forms/microtubules of cell division attach to

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4
Q

Kinetochore

A

Structure that is formed on the centromere for microtubule attachment

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5
Q

Diploid

A

2 copies of each chromosome

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6
Q

Haploid

A

Single copy of a chromosome

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7
Q

Tetraploid

A

4 copies of a chromosome, typically found in the liver

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8
Q

Homologs

A

The same type of chromosomes, but from different cell sources (i.e. mom and dad)

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9
Q

Chromatin

A

Protein structure DNA is bound to

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10
Q

Nucleosomes

A

8 histone proteins that DNA winds around

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11
Q

Euchromatin

A

Type of interphase nuclear structure that is less tightly packed and present in more metabolically active cells

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12
Q

Heterochromatin

A

Type of interphase nuclear structure that is densely packed and present in less metabolically active cells

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13
Q

Chromatids

A

One chromosome while the homologs are bound for cell division

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14
Q

P-arm of chromatid

A

Shorter arm of chromatid

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15
Q

Q-arm of chromatid

A

Longer arm of chromatid

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16
Q

Metacentric chromosomes

A

Arms of equal size (more or less)

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17
Q

Acrocentric chromosomes

A

Very short p-arms

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18
Q

Telocentric chromosomes

A

Essentially only q-arms

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19
Q

Interphase

A

Cells prepare for division

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20
Q

G1-phase

A

Cell synthesizes proteins for DNA synthesis, checks over existing DNA/presence of growth factor

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21
Q

S-phase

A

DNA suplicated

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22
Q

G2-Phase

A

DNA checked again, cell prepares for division, centrioles duplicated/centrosomes associated

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23
Q

Mitosis

A

Dividing a diploid cell into another diploid cell

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24
Q

Prophase

A

Chromosomes condense, centrioles separate, mitotic spindle forms (ends when nuclear envelope breaks down)

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25
Q

Prometaphase

A

Chromosomes attach to mitotic spindles, become aligned on metaphase plate

26
Q

Metaphase

A

Chromosomes aligned on metaphase plate (ends when chromatids begin to separate)

27
Q

Anaphase

A

Chromosomes pulled towards spindle poles (ends when chromatids are maximally separated

28
Q

Telophase

A

Lamins are dephosphorylated, nuclear membrane reforms, chromosomes de-condense

29
Q

Cytokinesis

A

Contractile ring of the membrane draws in, dividing the cell in two

30
Q

Meiosis

A

Cells are reduced from diploid to haploid

31
Q

Interphase 1

A

Similar to mitotic interphase, but DNA content increases from 2d to 4d

32
Q

Prophase 1

A

Homologous chromosomes must find and pair with one another, 5 stages: Leptotene, Zygotene, Pachytene, Diplotene, Diakinesis

33
Q

Leptotene

A

Chromosomes condense into thin (lepto-) threads and pair

34
Q

Zygotene

A

Synaptonemal complex forms between homologs to help keep chromosomes aligned as they condense (also allows for cross-over: zygo=yoke)

35
Q

Pachytene

A

Chromosomes become shorter and wider (pachy=thick)

36
Q

Diplotene

A

Synaptonemal complex breaks down, chiasmata is formed between homologs

37
Q

Chiasmata

A

Where cross-overs occurred between homologs

38
Q

Diakinesis

A

Chromosomes complete condensation, nuclear envelop breaks down

39
Q

Metaphase 1

A

Tetravalent homologs are aligned at metaphase plate, homologs attach to opposite poles

40
Q

Anaphase 1

A

Chiasmata holding homologs are severed, homologs move to opposite poles, while sister chromatids move to the same pole

41
Q

Telophase 1

A

Nuclear envelop reforms, giving rise to 2 secondary gametes

42
Q

Interphase 2

A

No DNA synthesis, only checking of DNA

43
Q

Prophase 2

A

Chromosomes condense, centrioles separate, mitotic spindles form, nuclear envelope breaks down

44
Q

Metaphase 2

A

Chromosomes align on metaphase plate

45
Q

Anaphase 2

A

Chromatids split

46
Q

Telophase 2

A

lamina dephosphorylate, nuclear envelop reforms

47
Q

Crossover

A

interchange of chromatid segments via chasms occurs during meiosis I

48
Q

Chiasma

A

temporary junction that chromatids form to transfer DNA

49
Q

Linked genes

A

genes that are inherited together

50
Q

Spermatogenesis steps/names

A

Spermatogonia–1ºspermatocytes–(M1)–2º spermatocytes–(M2)–spermatids–(spermatogenesis)–sperm

51
Q

Oogenesis

A

Oogonia–1º oocytes–(M1)–2º oocyte–(ovulation)–dies or is fertilized (M2)

52
Q

Fertilization

A

Sperm/oocyte form a zygote

53
Q

Aneuploidy

A

Gain/lose a single chromosome, is most common type of abnormality

54
Q

Polyploidy

A

Multiple copies of the entire genome (not viable)

55
Q

Trisomy 21

A
  • aka Downs syndrome, extra 21
  • Characterisitc facial/hand features, mental retardation, congenital heart defects, developmental malformations
56
Q

Klinefelter syndrome

A
  • Only in males
  • 47 chromosomes – XXY
  • phenotypically male, but hypogonadism
57
Q

Turner Syndrome

A
  • Phenotypically female
  • Only 1 X
  • absense of ovaries, short stature, webbed neck, board chest, wide nipples
58
Q

Angelman Syndrome

A
  • Microdeletion on paternal 15
  • Mental retardation, hypotonia, obesoti, hypogonadism, cryptorchidism
59
Q

Cri-du-chat Syndrome

A
  • deletion of part of 5
  • Mircocephaly, mental retradation, congenital heart disease, cry sounds like a cat
60
Q

Trisomy X

A
  • XXX
  • phenotypically female
  • typically tall, low IQ, learning disabilities

Anatomy (35 decks)

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