gene expression Topic 20 Flashcards

1
Q

what is a gene mutation

A

a change to the structure of the DNA nucleotide base sequence of an organism (most likely during DNA replication)

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2
Q

when do chromosome mutations occur

A

in meiosis
non-disjunction - chromatids are pulled apart

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3
Q

what are the causes of gene mutations

A

gen mutations occur spontaneously - may arise during DNA replication
mutation may be increased by env factors (MUTAGENIC AGENTS);
- chemicals (bromine compounds)
- ionising radiation (x-rays)
- high energy radiation (UV light)

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4
Q

what is deletion and its effects on the encoded polypeptide

A

loss of a nucleotide base from a DNA sequence
- impact on phenotype might be enormous because:
- creates frame shift (reading frame that contains each 3 letters of the code has been shifted to the left by 1)
- gene is now read in the wrong 3 base groups
- coding information altered
- most triplets + amino acids they code for will be different
- diff polypeptides = non- functional protein which could alter the phenotype

deletion at the start could alter every triplet but deletion at the end is likely to have a smaller impact

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5
Q

what is the duplication of bases as a mutation

A

one or more bases are repeated
producing a frame shift to the right

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6
Q

what is the inversion of bases as a mutation

A

group of bases become separated from DNA sequence
re-join at the same position but in INVERSE order (back to front)
base sequence of this portion is reversed and effects the amino acid sequence

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7
Q

what is the translocation of bases as a mutation

A

group of bases become separated from the DNA sequence on one chromosome and become inserted into the DNA sequence of a diff chromosome
translocations have sig effects on gene expression , leading to abnormal phenotype

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8
Q

what does development involve in the growth and development of stem cells

A

arranging specialised cells into tissues which are arranged into organs
cells become specialised via cellular differentiation
a zygote is the precursor for all cells in the body (divides by mitosis) and contains all genetic info required to produce all cell types

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9
Q

what are totipotent stem cells

A

can differentiate into any type of specialised body cell
undifferentiatedwh

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10
Q

what are pluripotent stem cells

A

produce any body cell but can’t become whole organism

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11
Q

how do cells lose their totipotency and become specialised

A

during development, totipotent cells translate only part of their DNA
= cell specialisation

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12
Q

some genes are expressed in all cells - suggest which genes are expressed in all cell types

A

mitochondrial

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13
Q

name two encoded proteins whose genes are not expressed ina small intestine epithelial cell

A

collagen
salivary amylase
actin + myosin

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14
Q

what are multipotent stem cells

A

can divide to form a limited number of different cell types (cells in the bone marrow produce differentiated types of blood cells)

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15
Q

what are unipotent stem cells

A

can divide to form only a single cell type (phagocyte)

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16
Q

what are the 3 general properties of stem cells

A
  • can divide and renew themselves over long periods of time
  • are unspecialised
  • can differentiate into other specialised cell types
17
Q

what are iPS cells

A
  • induced pluripotent stem cells can be produced from almost any adult somatic cells (cardiomyocyte, skin, liver, stomach cells)
  • produced from unipotent stem cells
  • acquire characteristics of pluripotent stem cells
  • their genes can be induced using appropriate protein transcription factors
  • although similar, they are diff to embryonic stem cells - capable of self-renewing and dividing the unlimited numbers (potential limitless supply)
18
Q

how can stem cells be used to treat disorders

A

Leukaemia is cancer of the white blood cells which can grow out of control
- bone marrow stem cells can differentiate into blood cells, so bone marrow transplants can help leukaemia patients develop healthy blood cells