LECTURE III Flashcards

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1
Q

this is the study of inheritance through the lens of structure and function of chromosomes?

A

cytogenics

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2
Q

name the purines?

A

adenine and guanine

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3
Q

name the pyrimidines?

A

cytosine, thymine, uridine

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4
Q

coiled solenoid (to protect genetic material as they go through mitosis or meiosis (contains proteins and DNA))

A

chromatin

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5
Q

each turn contains 6 nucleosomes and 1200 nucleotide pairs?

A

solenoid

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6
Q

DNA wound twice around an octane of histones (2 subunits each of H2A, H2B, H2, H4, plus an unconcerned H1 that anchors the DNA)

so as a result, this structure of interphase chromosome allows more/less access to the sequence for transcription, what is this called?

A

nucleosome

epigenetics

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7
Q

what form of double stranded DNA is this?

right-handed, 11bp/turn, crystal structure

A

A form

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8
Q

what form of double stranded DNA is this?

right-handed, 10bp/turn, most common form

A

B form

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9
Q

what form of double stranded DNA is this?

left-handed, 12 bp/turn. alternating CGCGCG

A

Z form

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10
Q

heterochromatin has DNA Methylation or DNA Demethylation?

A

DNA methylation

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11
Q

T/F, heterochromatin has high or low AT content?

A

high

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12
Q

Euchromatin is histone methylation or histone acetylation?

A

histone acetylation

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13
Q

Euchromatin or heterochromatin has high GC content?

A

Euchromatin

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14
Q

this has highly repetitive DNA that protects the chromosomal ends from degradation. Per each division, the tail shortens. Conversely lengthened by telomerase?

A

telomere

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15
Q

in producing a karyotype, the chemicals used stop mitosis in what phase?

A

metaphase

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16
Q

this type of technique stains chromosomes with Giemsa stain and labels heterochromatin?

A

G-banding

stains A-T rich; dark; gene poor areas

17
Q

this type of technique stains chromosome with acridine orange and labels euchromatin?

A

R-banding

stain G-C rich; dark; X chromosome abnormalities

18
Q

this type of technique stains denatured chromosomes with Giemsa stain and labels heterochromatin more specifically?

A

C-banding

stains the centromeric heterochromatin and chromosomes with large heterochromatin sections

19
Q

this type of staining uses UV florescent and has the same patterning as G banding microscope?

A

Q banding: Quinacrine stain

AT-rich heterochromatin

20
Q

this typing can identify the loss of heterozygosity or translocation

A

SKY typing

21
Q

this typing can identify loss of heterozygosity (LOH) or translocation?

A

FISH typing

22
Q

what can chromosomal microarray detect?

A

microdeletions and microduplications

abnormalities of chromosome number

unbalanced rearrangements

excessive homozygosity

mosaicism

23
Q

de novo terminal deletion of chromosome 15q26.1 is linked to?

A

congenital diaphragmatic hernia (CDH) as well as congenital malformations and developmental delay

24
Q

this type of chromosome is a characteristic translocation between chromosome 22 and 9. Rearrangement results in the expression of an aberrant active signaling molecule that is always active and stimulating cel proliferation, specifically a form of leukemia?

A

The Philadelphia Chromosome

25
Q

this type of translocation joins a normal, non homologous, acrocentric chromosome, breakage and rejoining occurs, this translocation happens as a result?

A

robertsonian translocation

26
Q

name this syndrome:

this is a range of developmental problems including including learning disabilities, cognitive impairment, characteristic physical anomalies. More more affected?

A

Fragile X syndrome

27
Q

this type of chromosomal disorder is found within the FMR1 gene. Most people carry some repeats but addition of additional repeats leads to syndrome?

A

CGG triplet repeat expansion

28
Q

this type off disease develops chorea, changes in personality, cognitive issues and CAG repeat expansion within the HTT gene?

A

Huntington disease