Genes and Chromosomes Flashcards

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
what are pseudogenes
look like real genes but do not code for any protein hence nonfunctional
26
mitochondrial DNA thought to have risen by?
endosymbiosis because it is a single, circular DNA
27
how are most mitochondrial proteins encoded
by gene in nucleus
28
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?
exons
29
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
short tandem repeats
30
DNA wound around specific proteins
histone
31
hierarchical levels of chromatin packaging in a human chromosome
double helix --> nucleosome fiber (beads on a string) --> solenoid ---> nucleus
32
importance of metaphase
maximum condensation hence you see all the chromosome ...great for karyotyping
33
attach to the centromere kinetochores during cell division
microtubules
34
gene absent where
centromere and telomere
35
when p and q arm are of equal length
metacentric chromosome (chromosome 1)
36
when p arm is shorter than q arm
submetacentric chromosome (chromosome 4)
37
when p arm contains little genetic information
acrocentric chromosome (chromosome 1, 14, 15, 21, and 22)
38
largest chromosome | smallest chromosome
1 is largest | 21 is smallest
39
when both chromosomes of a pair are derived from same parent
uniparental disomy
40
inactivated and condensed X chromosome
barr body (in females)
41
is the same X chromosome inactivated in all descendants of that cell or nah
it is!
42
X-inactivation is regulated by a region called ______ that has the gene, ______ involved in inactivation
X-inactivation center (Xic) XIST gene
43
XIST RNA coats one of the X-chromosome resulting in...
transcription interference
44
females are said to be mosaic because
of X-inactivation
45
what is locus of a gene
location on the chromosome
46
Autosomal dominant disorders begin with Autosomal recessive disorders begin with X-linked disorders begin with Mitochondrial disorders begin with
1 2 3 5
47
what is significant the p arm on acrocentric chromosome
it has satellite structures
48
what does the mushroom alpha amanatin
RNA pol II