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Yr1 -S1 - Principles of Disease > Chromosomes and cell division > Flashcards

Chromosomes and cell division Flashcards

1
Q

Telomeres

A

5’ - TTAGGG - 3’ repeats at the end of chromosomes

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2
Q

Mitosis

A

two new daughter cells created

diploid cells form diploid cells

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3
Q

Meiosis

A

produces haploid cells from diploid cells

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4
Q

Fertilisation

A

produces diploid cells from haploid cells

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5
Q

how many base pairs?

A

3 billion

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6
Q

how many human genes

A

20-30000

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7
Q

how much DNA is protein coding DNA?

A

about 2%

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8
Q

Chromatin

A

DNA packaged with histone proteins

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9
Q

Histones have a ………. charge

A

positive

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10
Q

Histones in chromatin are packed into units called

A

nucleosomes

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11
Q

FISH

A

Fluorescent in situ hybridisation

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12
Q

Cell division in germ cells

A

meiosis

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13
Q

Oogenesis

A

egg formation

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14
Q

Spermatogenesis

A

sperm formation

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15
Q

Sperm go through more………….. than eggs do

A

cell divisions

so more chance of mutation

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16
Q

Sickle cell disorders

A

abnormal HB gene

17
Q

Shaped in family history BOYS

A

square

18
Q

shapes in family history GIRLS

A

circle

19
Q

Cystic Fibrosis

A

1 in 25 in the UK are carriers

single gene (>3000 mutations)

20
Q

Autosomal Dominant inheritance

A

each child would have 50% chance of inheriting the mutation

21
Q

X-linked / sex linked inheritance

A

only males are affected classically

22
Q

Multiple genes in the same molecular pathway can cause the same…

A

Mendelian Disease

23
Q

Trisomy 13

A

Patau Syndrome

24
Q

Trisomy 18

A

Edwards syndrome

25
Q

Turner Syndrome

A

45 - X

26
Q

Klinefelter syndrome

A

47 XXY

27
Q

Transitions

A

Purine to Purine

28
Q

Transversions

A

Purine to pyrimidine

29
Q

Chromatin

A

mixture of DNA, RNA and proteins

30
Q

nucleosomes and folding of chromatin are…

A

barriers to enzymes

31
Q

Chromatin is made more available by….

A

histones being genetically modified

histone being displace by chromatin remodelling complexes

32
Q

Chromosomes are compact and VISIBLE during….

A

metaphase

33
Q

Exons

A

Coding regions

34
Q

Introns

A

Non-coding regions

35
Q

Major role of RNA

A

to participate in protein synthesis

DNA –> mRNA/tRNA/rRNA –> protein

36
Q

tRNA

A

major role to TRANSLATE mRNA sequence into an AA sequence

37
Q

rRNA

A

component of ribosomes

transported into the cytoplasm where they combine with proteins to form a ribosome

Yr1 -S1 - Principles of Disease (25 decks)

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