2C Gene expression and GENETICS Flashcards

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1
Q

types of point mutation

A

• substitution
• deletion
• insertion

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2
Q

substitution mutation

A

type of point mutation; one base in a gene is substituted for another

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3
Q

deletion mutation

A

type of point mutation; a base is completely lost

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4
Q

insertion mutation

A

type of point mutation; an extra base is added into a gene

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5
Q

mutation

A

a permanent change in the DNA of an organism

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6
Q

gametes

A

haploid sex cells that fuse to form a new diploid cell (zygote) in sexual reproduction

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7
Q

chromosomal mutations

A

changes in the position of entire genes within a chromosome

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8
Q

whole-chromosome mutations

A

the loss of duplication of a whole chromosome
• e.g. down syndrome is caused by a whole-chromosome mutation at chromosome 21

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9
Q

mutagent

A

anything that increases the rate of mutation
e.g. X-rays, ionising radiation

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10
Q

variation

A

difference between organisms which may be the result of different genes or the environment they live in

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11
Q

phenotype

A

the physical traits, including biochemical characteristics, expressed as a result of the interactions of the genotype with the environment

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12
Q

genotype

A

the genetic make-up of an organism with respect to a particular feature

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13
Q

homologous pairs

A

matching pairs of chromosomes in an individual which both carry the same genes, although they may have different alleles

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14
Q

locus

A

the site of a gene on a chromosome

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15
Q

alleles

A

versions of a gene, variants

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16
Q

homozygote

A

an individual where both alleles coding for a particular characteristic are identical

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17
Q

heterozygote

A

an individual where the two alleles coding for a particular characteristic are different

18
Q

dominant

A

a characteristic which is expressed in the phenotype whether the individual is homozygous or heterozygous for that allele

19
Q

recessive

A

a characteristic which is only expressed when both alleles code for it; in other words, the individual is homozygous for the recessive trait

20
Q

true breeding

A

a homozygous organism which will always produce the same offspring when crossed with another true-breeding organism for the same characteristic

21
Q

monohybrid cross

A

a genetic cross where only one gene for one characteristic is considered

22
Q

monohybrid cross

A

a genetic cross where only one gene for one characteristic is considered

23
Q

codominance

A

in heterozygotes, where both alleles at a gene locus are fully expressed in the phenotype

24
Q

sex-linked traits

A

characteristics which are inherited on the sex chromosomes

25
Q

autosomes

A

chromosomes which carry information about the body but do not determine the sex of an individual

26
Q

homogametic

A

an individual who produces gametes that contain only one type of sex chromosome - in humans this is the female

27
Q

heterogametic

A

an individual who produces two types of gamete each containing different types of sex chromosome - in humans this is the male

28
Q

transcription factors

A

proteins that bind to the DNA in the nucleus and affect the process of converting, or transcribing, DNA into RNA

29
Q

epigenetics

A

the study of changes in gene expression (active versus inactive genes) that does not involve changes to the underlying DNA sequence but affects how cells read genes

30
Q

sex-linked diseases

A

genetic diseases that result from a mutated gene carried on the sex chromosomes - ir human beings, on the X chromosome

31
Q

red-green colour blondness

A

a sex-linked genetic condition which affects the ability to distinguish tones of red and green

32
Q

haemophilia

A

a sex-linked genetic disease in which one of the factors needed for blood to clot is not made in the body

33
Q

genetic screening

A

when whole populations are tested for a genetic disease

34
Q

phenylketonuria PKU

A

a recessive genetic disorder where those affected lack the enzyme needed to digest the amino acid phenylalanine; the amino acid builds up in the blood and causes severe brain damage

35
Q

parental screening

A

screening of an embryo or fetus before birth

36
Q

amniocentesis

A

a type of prenatal screening which involves removing a sample of amniotic fluid at around 16 weeks of pregnancy, culturing the fetal cells found and analysing them for genetic diseases

37
Q

chorionic villus sampling

A

a type of prenatal screening where a small sample of embryonic tissue is taken from the developing placenta and the cells tested for genetic diseases

38
Q

preimplantation

A

genetic diagnosis testing the cells of an embryo produced by IVF to check for genetic diseases before it is implanted into the uterus of the mother

39
Q

PKU

A

phenylketonuria

40
Q

At what point during the pregnancy are amniocenteses performed?

A

at about the 16th week of pregnancy

41
Q

when during pregnancy is a chorionic villus sampling performed?

A

at about 8-10 week of pregnancy