8: Genetics Flashcards

mutations and inheritance

1
Q

two types of radiation that can cause mutations

A

high energy radiation, like UV
ionising radiation, like X rays, Gamma rays

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2
Q

the genetic code is what—–

A

degenerate

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3
Q

example of a nonsense mutation

A

cycstic fibrosis

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4
Q

what is a genotype

A

combination of alleles found in an organism at a particular gene

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5
Q

what is PKU caused by

A

a mutation in an autosomal gene that codes for the enzyme needed to convert phenylalanine to tyrosine

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6
Q

what is a codominant allele

A

two alleles that both contribute to the phenotype in a heterozygous individual

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7
Q

which pair of chromosomes are sex chromosomes

A

23rd

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8
Q

what are the three types of gene mutation

A

substitution, deletion, insertion

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9
Q

nonsense mutations:

A

creates a premature stop codon, no functional protein is made

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10
Q

what is a gene locus

A

place gene is found on a chromosome

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11
Q

cancer starts how

A

mutation in gene that causes cell division- oncogene, or in tumour supresser genes

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12
Q

what is the result of base substitution

A

SNP’s formed

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13
Q

what do SNP’s stand for

A

single nucleotide polymorphisms

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14
Q

cancer occurs from uncontrolled what

A

uncontrolled mitosis, forming a tumour

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15
Q

2 examples of chemical substances that can cause mutations

A

carcinogens found in tobacco smoke
mustard gas from WW1

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16
Q

what is a gene mutation

A

a change in the sequence of base pairs in a DNA molecule

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17
Q

example of disease involved in inheriting recessive alleles

A

phenylketonuria, PKU

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18
Q

2 types of mutagenic agents

A

chemical substances, radiation

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19
Q

substitution mutations can take three forms :

A

silent mutations
missense mutations
nonsense mutations

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20
Q

which cell, germ or somatic, is cancer related to

A

somatic

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21
Q

example of a missense mutation

A

sickle cell anaemia

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22
Q

example of phenotypic plasticity in humans

A

skin colour, enzymes activated in UV light increase expression/production of melanin

23
Q

deletion and insertion have an effect on the rest of the sequence known as a

A

frameshift mutation

24
Q

example of mutation hotspots are regions were it is more frequent, give an example

A

c-g
can turn into c-t
called methylation
associated with colorectal cancer

25
a germ cell uses waht:
meiosis to produce gametes
26
what is a test cross
a cross with a homozygous recessive organisms that tells you whether a dominant trait organism is hetero or homozygous
27
what is sex linkage
when the gene controlling the characteristic is located on the sex chromosome
28
example of incomplete dominance
mirabilis jalapa, red and white flowers creates pink
29
what is substitution mutation
when a nucleotide base in DNA is randomly swapped for a different base
30
what is deletion mutation
a nucleotide is randomly deleted from the sequence
31
what is insertion mutation
a nucleotide with a new base is randomly inserted into DNA sequence
32
what is the name for environmental factors that increase the mutation rate of cells
mutagenic agents
33
what is a phenotype
appearance/characteristic of an organism
34
what is phenotypic plasticity
although genotype remains fixed, phenotype expressed can vary
35
what is the only source of variation for asexual species
mutations
36
oncogene?
gene that has potential to cause cancer
37
feature of genetic code that means silent mutations can happen
degenerate
38
what needs to be inherited for a child to inherit PKU
2 recessive alleles
39
which three locations are most likely for mutations to occur
uncoiled DNA non coding regions mutation hotspots
40
what is a gene
a sequence of a DNA molecule that codes for a protein or characteristic
41
missense mutation:
alters single amino acid, still codes a protein
42
does the y or x chromosome have few genes
y
43
what is a recessive allele
An allele that only affects the phenotype when present in the homozygous state.
44
what does degenerate mean?
more codons than amino acids, mutations won't always cause change in DNA sequence
45
multiple alleles mean what
many genes can exist in multiple forms
46
are body cell mutations inherited?
no, mutations within a gamete are
47
what is a dominant allele
an allele that has the same effect on a phenotype whether is is homo/heterozygous
48
what are the three alleles of blood groups
IA, IB, i
49
example of phenotypic plasticity in animals
Himalayan rabbit, gene expression is influenced by temperature. parts of body that are cooler- black fur- ears feet nose
50
what is an example of a multiple allele
blood group
51
what is an allele
an alternative version of a gene
52
which molecule detects errors during DNA replication and repair
DNA polymerase
53
a somatic cell uses what
mitosis to produce body cells