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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
Prometaphase
Chromosomes attach to mitotic spindles, become aligned on metaphase plate
26
Metaphase
Chromosomes aligned on metaphase plate (ends when chromatids begin to separate)
27
Anaphase
Chromosomes pulled towards spindle poles (ends when chromatids are maximally separated
28
Telophase
Lamins are dephosphorylated, nuclear membrane reforms, chromosomes de-condense
29
Cytokinesis
Contractile ring of the membrane draws in, dividing the cell in two
30
Meiosis
Cells are reduced from diploid to haploid
31
Interphase 1
Similar to mitotic interphase, but DNA content increases from 2d to 4d
32
Prophase 1
Homologous chromosomes must find and pair with one another, 5 stages: Leptotene, Zygotene, Pachytene, Diplotene, Diakinesis
33
Leptotene
Chromosomes condense into thin (lepto-) threads and pair
34
Zygotene
Synaptonemal complex forms between homologs to help keep chromosomes aligned as they condense (also allows for cross-over: zygo=yoke)
35
Pachytene
Chromosomes become shorter and wider (pachy=thick)
36
Diplotene
Synaptonemal complex breaks down, chiasmata is formed between homologs
37
Chiasmata
Where cross-overs occurred between homologs
38
Diakinesis
Chromosomes complete condensation, nuclear envelop breaks down
39
Metaphase 1
Tetravalent homologs are aligned at metaphase plate, homologs attach to opposite poles
40
Anaphase 1
Chiasmata holding homologs are severed, homologs move to opposite poles, while sister chromatids move to the same pole
41
Telophase 1
Nuclear envelop reforms, giving rise to 2 secondary gametes
42
Interphase 2
No DNA synthesis, only checking of DNA
43
Prophase 2
Chromosomes condense, centrioles separate, mitotic spindles form, nuclear envelope breaks down
44
Metaphase 2
Chromosomes align on metaphase plate
45
Anaphase 2
Chromatids split
46
Telophase 2
lamina dephosphorylate, nuclear envelop reforms
47
Crossover
interchange of chromatid segments via chasms occurs during meiosis I
48
Chiasma
temporary junction that chromatids form to transfer DNA
49
Linked genes
genes that are inherited together
50
Spermatogenesis steps/names
Spermatogonia–1ºspermatocytes–(M1)–2º spermatocytes–(M2)–spermatids–(spermatogenesis)–sperm
51
Oogenesis
Oogonia–1º oocytes–(M1)–2º oocyte–(ovulation)–dies or is fertilized (M2)
52
Fertilization
Sperm/oocyte form a zygote
53
Aneuploidy
Gain/lose a single chromosome, is most common type of abnormality
54
Polyploidy
Multiple copies of the entire genome (not viable)
55
Trisomy 21
* aka Downs syndrome, extra 21 * Characterisitc facial/hand features, mental retardation, congenital heart defects, developmental malformations
56
Klinefelter syndrome
* Only in males * 47 chromosomes – XXY * phenotypically male, but hypogonadism
57
Turner Syndrome
* Phenotypically female * Only 1 X * absense of ovaries, short stature, webbed neck, board chest, wide nipples
58
Angelman Syndrome
* Microdeletion on paternal 15 * Mental retardation, hypotonia, obesoti, hypogonadism, cryptorchidism
59
Cri-du-chat Syndrome
* deletion of part of 5 * Mircocephaly, mental retradation, congenital heart disease, cry sounds like a cat
60
Trisomy X
* XXX * phenotypically female * typically tall, low IQ, learning disabilities

Anatomy (35 decks)

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