Genes and Chromosomes Flashcards

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1
Q

what is short arm of chromatid called?

A

p arm

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2
Q

what is the long arm of chromatid called?

A

q arm

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3
Q

what is chargaff’s rule

A

purines = pyrimidines

A + G = T + C

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4
Q

what is complementary strand of

5’ CGGTACT 3’

A

5’ AGTACCG 3’

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5
Q

what can anti parallel strand of DNA be used for?

A

primer for PCR or ASO probe for mutation detection

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6
Q

are both introns and exons transcribed and translated?

A

introns and exons are both transcribed but only exons are translated

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7
Q

purpose of alternative splicing

A

to form different proteins from one gene

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8
Q

name some regulatory sequences and what do they do

A

enhancers, silencers, promoters

they regulate the rate of transcription

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9
Q

how does methylation (an epigenetic modification) affect transcription

A

the more methylated, the less effective transcription is

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10
Q

makeup of DNA

A

nuclear, extragenic DNA (repetitive), and mitochondrial

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11
Q

where is highest gene density

A

subtelomeric region

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12
Q

noncoding region of DNA

A

centromere, telomere, and heterochromatic region

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13
Q

what is nuclear coding DNA

A

unique single copy genes and multigene families

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14
Q

difference between single gene and multigene

A

single gene - codes for only one protein

multigene - genes with similar functions that have arisen by gene duplication

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15
Q

what is extragenic DNA

A

the other 98% of our DNA that is not transcriptionally active and appears nonfunctional

might play a role in regulation of gene expression

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16
Q

importance of STR (short tandem repeats)

A

fingerprinting (microsatellite)

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17
Q

polymorphic and inherited in a codominant fashion

A

STR (short tandem repeats)

VNTR (variable number of tandem repeats)

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18
Q

subgroups of tandem repeats

A

satellite, minisatellite, microsatellite

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19
Q

satellite DNA are usually clustered around?

A

centromeres of chromosomes

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20
Q

importance of telomeres

A

necessary to prevent shortening of chromosomes

21
Q

previously used for fingerprinting

A

hypervariable minisatellite (VNTR)

22
Q

appears to be normal RNA converted back to DNA using reverse transcriptase then reinserted back into genome

~10% of human genome

A

short interspersed nuclear element (SINE)

23
Q

might be responsible for mutation because of unequal crossover during meiosis

A

LINE and SINE

24
Q

LINEs code for what enzyme

A

reverse transcriptase

25
Q

what are pseudogenes

A

look like real genes but do not code for any protein hence nonfunctional

26
Q

mitochondrial DNA thought to have risen by?

A

endosymbiosis because it is a single, circular DNA

27
Q

how are most mitochondrial proteins encoded

A

by gene in nucleus

28
Q

A student observes the β-globin amino acid sequence, and compares it to the β-globin gene sequence. He finds that some regions are missing in the β-globin protein that is synthesized. The sequences that would be present in the protein that is synthesized are?

A

exons

29
Q

A research geneticist has identified a tetranucleotide repeat polymorphic marker, that is linked to an autosomal dominant disorder in a family. This marker belongs to the class of

A

short tandem repeats

30
Q

DNA wound around specific proteins

A

histone

31
Q

hierarchical levels of chromatin packaging in a human chromosome

A

double helix –> nucleosome fiber (beads on a string) –> solenoid —> nucleus

32
Q

importance of metaphase

A

maximum condensation hence you see all the chromosome …great for karyotyping

33
Q

attach to the centromere kinetochores during cell division

A

microtubules

34
Q

gene absent where

A

centromere and telomere

35
Q

when p and q arm are of equal length

A

metacentric chromosome (chromosome 1)

36
Q

when p arm is shorter than q arm

A

submetacentric chromosome (chromosome 4)

37
Q

when p arm contains little genetic information

A

acrocentric chromosome (chromosome 1, 14, 15, 21, and 22)

38
Q

largest chromosome

smallest chromosome

A

1 is largest

21 is smallest

39
Q

when both chromosomes of a pair are derived from same parent

A

uniparental disomy

40
Q

inactivated and condensed X chromosome

A

barr body (in females)

41
Q

is the same X chromosome inactivated in all descendants of that cell or nah

A

it is!

42
Q

X-inactivation is regulated by a region called ______ that has the gene, ______ involved in inactivation

A

X-inactivation center (Xic)

XIST gene

43
Q

XIST RNA coats one of the X-chromosome resulting in…

A

transcription interference

44
Q

females are said to be mosaic because

A

of X-inactivation

45
Q

what is locus of a gene

A

location on the chromosome

46
Q

Autosomal dominant disorders begin with
Autosomal recessive disorders begin with
X-linked disorders begin with
Mitochondrial disorders begin with

A

1
2
3
5

47
Q

what is significant the p arm on acrocentric chromosome

A

it has satellite structures

48
Q

what does the mushroom alpha amanatin

A

RNA pol II