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 is gene that causes cell division

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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
Q

a germ cell uses waht:

A

meiosis to produce gametes

26
Q

what is a test cross

A

a cross with a homozygous recessive organisms that tells you whether a dominant trait organism is hetero or homozygous

27
Q

what is sex linkage

A

when the gene controlling the characteristic is located on the sex chromosome

28
Q

example of incomplete dominance

A

mirabilis jalapa, red and white flowers creates pink

29
Q

what is substitution mutation

A

when a nucleotide base in DNA is randomly swapped for a different base

30
Q

what is deletion mutation

A

a nucleotide is randomly deleted from the sequence

31
Q

what is insertion mutation

A

a nucleotide with a new base is randomly inserted into DNA sequence

32
Q

what is the name for environmental factors that increase the mutation rate of cells

A

mutagenic agents

33
Q

what is a phenotype

A

appearance/characteristic of an organism

34
Q

what is phenotypic plasticity

A

although genotype remains fixed, phenotype expressed can vary

35
Q

what is the only source of variation for asexual species

A

mutations

36
Q

oncogene?

A

gene that has potential to cause cancer

37
Q

feature of genetic code that means silent mutations can happen

A

degenerate

38
Q

what needs to be inherited for a child to inherit PKU

A

2 recessive alleles

39
Q

which three locations are most likely for mutations to occur

A

uncoiled DNA
non coding regions
mutation hotspots

40
Q

what is a gene

A

a sequence of a DNA molecule that codes for a protein or characteristic

41
Q

missense mutation:

A

alters single amino acid, still codes a protein

42
Q

does the y or x chromosome have few genes

A

y

43
Q

what is a recessive allele

A

allele that determines phenotype is organism is homozygous

44
Q

what does degenerate mean?

A

more codons than amino acids, mutations won’t always cause change in DNA sequence

45
Q

multiple alleles mean what

A

many genes can exist in multiple forms

46
Q

are body cell mutations inherited?

A

no, mutations within a gamete are

47
Q

what is a dominant allele

A

an allele that has the same effect on a phenotype whether is is homo/heterozygous

48
Q

what are the three alleles of blood groups

A

IA, IB, i

49
Q

example of phenotypic plasticity in animals

A

Himalayan rabbit, gene expression is influenced by temperature. parts of body that are cooler- black fur- ears feet nose

50
Q

what is an example of a multiple allele

A

blood group

51
Q

what is an allele

A

an alternative version of a gene

52
Q

which molecule detects errors during DNA replication and repair

A

DNA polymerase

53
Q

a somatic cell uses what

A

mitosis to produce body cells