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GGA 2 > Mendelian Inheritance > Flashcards

Mendelian Inheritance Flashcards

1
Q

Will 2 restriction target sites on the same DNA strand be compatible?

A

No

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2
Q

The eukaryotic metaphase chromosomes will consist of 2…

A

sister chromatids. This happens by 1 chromatid opening and being replicated to form an identical sister

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3
Q

Cohesin attaches to…

A

the 2 sister chromatids when the replica has been made. This is designed to keep things organised

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4
Q

The centromere is..

A

a part of the chromosome which is known as the primary constriction site where proteins bind to initially

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5
Q

A telomere is

A

The end parts of chromosomes. There are 2 on each one

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6
Q

DNA is 1 single molecule running from….

A

one telomere to another

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7
Q

Centromeres are where…

A

chromosomes attach, via the kinetochore, to the mitotic spindle during metaphase.

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8
Q

The centromere divides the chromosome…

A

into 2 arms. These are known as the p arm (shorter) and the q arm (longer)

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9
Q

DNA of each chromatid is packaged tightly with proteins to form….

A

chromatin

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10
Q

During interphase (s phase)

A

DNA is replicated

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11
Q

During metaphase…

A

DNA is condensed to form chromosomes

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12
Q

Cohesin holding sister chromatids must be broken at the centromere….

A

after the arms

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13
Q

Telomeres have 2 problems.. these are

A

free ends and telomere shortening

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14
Q

New DNA is synthesised in the…

A

5 prime to 3 prime direction.

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15
Q

The lagging strand is synthesised in…

A

short stretches

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16
Q

telomeric repeats are

A

a bit of DNA which is repeated. These are 6 nucleotides long but take up a reasonable amount of kb. These repeats are recognised by a protein called shelterin which aids in the folding of the strand.

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17
Q

Chromosomes 1-22 exist as

A

homologous chromsomes.

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18
Q

Females have a homologous pair of…

A

x chromosomes

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19
Q

Males have a non- homologous pair of

A

sex chromosomes

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20
Q

Issues with chromosome 21 (having an extra 1) can result in

A

Down’s syndrome

21
Q

cri-du-chat syndrome is

A

related to the cry that the baby makes. This happens due to the partial deletion of 5p (part of chromosome 5)

22
Q

Fragile X syndrome

A

results in defects from x chromosome genes. Occurs due to issues with the secondary constriction on part of the arm. Particular genes affected include the FMR1 gene

23
Q

One of the benefits of telomeres forming is that…

A

it ensures that cells remain mortal, hence, it actually suppresses diseases such as cancer.

24
Q

how do kinetochores know where centromeres are?

A

Centromeres have different histones which make up the chromatin there

25
Q

Most of the eukaryotic genome is…

A

non- coding (i.e. they dont code for proteins or anything useful)

26
Q

Our genome contains…

A

unique and repetitive sequences

27
Q

Some genes are also…

A

present more than once in the genome

28
Q

In eukaryotic gene expression…

A

transcription and translation can never be coupled

29
Q

Each eukaryotic gene has its own transcription unit with a promoter at the

A

5’ end

30
Q

each gene is transcribed on its own specifically in…

A

eukaryotes

31
Q

Multiple transcription factors recognise specific DNA sequence elements within the…..

A

gene promoter

32
Q

The TATA box is…

A

the sequence of DNA where the TBP exists and the Transcription factor binds

33
Q

RNA polymerase is recruited by…

A

transcription factors in eukaryotes

34
Q

In prokaryotes, RNA polymerase…

A

identifies the promoter on its own.

35
Q

The steps of mRNA processing is

A
  1. capping - this is where mRNA’s have a 5 prime cap for ribosome binding
  2. slipicing - this is where the introns are spliced and the exons are brought together which maintains the open reading frame
  3. Polyadenylation - a polyA tail is added to the 3 prime end for stability
36
Q

splicing occurs in the

A

spliceosome

37
Q

The spliceosome recognises…

A

the boundary between the intron and exon nucleotide

38
Q

Only pol II coding genes are

A

polyadenylated and capped

39
Q

Duchenne Muscular dystrophy

A

is a progressive muscle degeneration, and it comes across due to defects in dystrophin gene, it is sex linked, there is a milder form known as BMD. Dystrophin protein sits in the membrane that surrounds muscle fibres, and protects the membrane. DMD occurs due to a deleted exon, which therefore results in the protein being non functional.

40
Q

non coding genes could possibly have a function

A

It is possible that some of the non coding genome does work to make RNA however more investigation is needed. Also having non- coding genes are responsible for alternative splicing.

41
Q

Dominant negative mutations….

A

is where the mutant allele product interfering with the function of the unaffected allele.

42
Q

Haploinsufficiency is where …

A

the gene product is insufficient because of the mutant allele, and this prevents the normal phenotype.

43
Q

Dominance is a property…

A

of the phenotype

44
Q

loss of function allele is normally

A

recessive

45
Q

co dominant alleles each produce

A

a phenotype

46
Q

incomplete dominance arises when two alleles produce

A

an incomplete phenotype

47
Q

Mammalian coat colour results from the interaction of atleast

A

5 separate genes

48
Q

complex or multifactorial traits result from

A

participation in the same or overlapping pathways

49
Q

genome wide association studies

A

exploits naturally occuring linkage disequilibrium

GGA 2 (4 decks)

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