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cell biology > human genome and chromosomes > Flashcards

human genome and chromosomes Flashcards

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AP® Biology flashcards Biology 101 flashcards
1
Q

what phase does DNA replication occur in?

A

S phase

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2
Q

what is a karyotype?

A

complete set of chromosomes in a species

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3
Q

what is a kayogram?

A

an actual photograph of chromosomes arranged in homologous pairs

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4
Q

what phase are karyograms usually taken in?

A

metaphase - chromosomes condense

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5
Q

what is the short arm of the chromosome called?

A

the p arm

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6
Q

what is the long arm of the chromosome called?

A

the q arm

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7
Q

what are telomeres?

A

protective DNA and protein cap with repeating DNA which caps the end of the chromosome

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8
Q

what happens to telomeres over time?

A

they shorten

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9
Q

what does the centromere do?

A

keeps sister chromatids together
attaches to microtubules
repetitive DNA

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10
Q

what is the G light band

A

light band of the DNA
gene rich
GC rich
early replication

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11
Q

what is the G dark band?

A

gene poor
AT rich
late replicating

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12
Q

what are the autosomes

A

chromosomes 1-22

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13
Q

what are the sex chromosomes

A

chromosomes 23

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14
Q

what is the haploid chromosome number?

A

23

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15
Q

what is the diploid chormosome number?

A

46

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16
Q

define aneuploidy

A

an abnormal number of chromosomes

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17
Q

define pseduogene

A

non-functional copy of a gene

genes get duplicated and mutated

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18
Q

what is disomy?

A

two copies of a chromosome

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19
Q

what is polyploidy

A

gain one or more haploid sets of chromosomes

20
Q

what is translocation?

A

when one part of a chromosome breaks off and joins onto another chromosome

21
Q

what is a Robertsonian translocation?

A

two chromosomes joining at their centromere

22
Q

what causes down’s syndrome?

A

trisomy 21
robertsonian translocation (extra chromosome 21)
mosaicism

23
Q

give some features of downs syndrome

A 
distinct facial expression
muscle hypotonia
congenital heart malformations
lower IQ - learning difficulties
distinct facial feature
may have single palm crease
24
Q

what causes Edwards syndrome?

A

trisomy 18

25
Q

what are some features of Edwards syndrome?

A

clenched hands with overlapping fingers

distinct feet and facial paterns

26
Q

what causes Patau syndrome?

A

trisomy 13

27
Q

what causes Klinefelter’s syndrome?

A

extra X chromosome in males

XXY

28
Q

what are features of Klinefelter’s?

A

infertility
poorly developed secondary sexual characteristics
tall

29
Q

what causes Turner’s syndrome?

A

only 45 chromosomes

missing an X chromosome in females

30
Q

what are some features of Turner’s syndrome?

A 
dont have periods - primary amenorrhoea
short
poorly developed breasts
low hairline
congenital heart disease
31
Q

name some methods of prenatal diagnosis

A

amniocentesis
chorionic villus sampling - testing placenta tissue
non-invasive techniques e.g. ultrasound

32
Q

what is lyonisation?

A

X chromosome inactivation

33
Q

why is lyonisation needed?

A

so that female somatic cells only have one function X chromosome

34
Q

what are pseudoautosomal regions?

A

genes found on both X and Y regions

35
Q

what is the Barr body?

A

inactivated X chromosome

36
Q

what is the SRY?

A

sex determining region of the Y chromosome

37
Q

what is g banding?

A

A technique where you take a metaphase spread of chromosome on a glass slide, add trypsin and digest away some of the proteins so you’re left with some reproducible bands

38
Q

what are coding sequences?

A

encode proteins

39
Q

what are non-coding sequences?

A

intergenic regions and introns

40
Q

what are exons?

A

regions of genes that encode protein sequences

41
Q

what are introns?

A

non-coding regions between the exons in a gene

42
Q

what are control elements?

A

sequences like promoters and enhancers that regulate transcription.

43
Q

what is a pseudogene?

A

non-functional copy of a gene; arises from gene duplication followed by deleterious mutation in one copy.

44
Q

what is pre-mRNA?

A

first strand made after transcription

45
Q

what is splicing?

A

the process by which the introns are removed to give rise to the mRNA sequence which then codes for the protein

46
Q

what are features of Patau syndrome?

A

• Affects midline structures particularly: incomplete lobation of the brain, cleft lip, congenital heart disease

47
Q

how is down’s syndrome tested for?

A

ultrasound imaging of nuchal translucency

11-14 weeks

cell biology (17 decks)

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