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Physiology > Reproduction & Genetics > Flashcards

Reproduction & Genetics Flashcards

1
Q

Define haploid.

A

1 set of chromosomes, found in sperm/egg

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2
Q

Define karyotype.

A

Number of chromosomes found in the nucleus.

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3
Q

Define diploid.

A

2 sets of non sex chromosomes, normal human cell

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4
Q

Define polyploid.

A

More than 2 sets of chromosomes

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4
Q

What is the purpose of a histone protein?

A

Binds the DNA proteins together and allows the unwinding of DNA

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5
Q

Define amyloid.

A

2 sets +/- chromosomes or parts of chromosomes

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6
Q

Define telomere.

A

Are the tails at the end of chromosomes. They reduce each time a chromosome is copied so can only multiple a set number of times

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7
Q

Define telomerase.

A

This extends telomeres, allowing for additional replication once telomeres size has decreased

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8
Q

Names the bases of DNA.

A

Adenine & Guanine (Purines)

Thymine (DNA only), Uracil (RNA only) & cytosine (pyrimidines)

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9
Q

Define nucleoside.

A

Base + sugar molecule

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10
Q

Which bases pair up in DNA structure?

A

Adenine (A) & Thymine (T)

Cytosine (C) & Guanine (G)

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11
Q

What are the base pairings for RNA?

A

Adenine (A) & Uracil (U)

Cytosine (C) & Guanine (G)

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13
Q

What is the function of DNA?

A
  • provides instructions for building every protein in the body
  • Replicates prior to cell division ensuring exact replication in each daughter cell
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13
Q

Define codon.

A

RNA sequence for amino acids to form a protein

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14
Q

What is the function of RNA?

A
  • Regulates gene expression

- Transcribes & translates DNA instructions for protein manufacture

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15
Q

Summarise DNA transcription.

A

The process of copying DNA to mRNA

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16
Q

Where are mRNA converted into proteins?

A

Ribosomes on the endoplasmic reticulum

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17
Q

Summarise translation.

A

tRNA is matched with a complimentary codon

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18
Q

Define protein some.

A

Where protein structures are broken down and recycled

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20
Q

Summarise DNA replication.

A

Transcription
Translation
Replication

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21
Q

Define mitosis.

A

a type of cell division that results in two daughter cells each having the same number and kind of chromosomes as the parent nucleus, typical of ordinary tissue growth.

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22
Q

Define meiosis.

A

a type of cell division that results in four daughter cells each with half the number of chromosomes of the parent cell, as in the production of gametes

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23
Q

What are the stages of mitosis?

A 
Interphase
Prophase
Metaphase
Anaphase
Telophase
Cytokinesis
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23
Q

Define genotype.

A

Is the genetic information from our 2 genes

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24
Q

What are the stages of meiosis?

A 
Interphase I
Prophase I
Metaphase I
Anaphase I
Telophase & cytokinesis
Prophase II
Metaphase II
Anaphase II
Telophase II
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25
Q

Define phenotype.

A

Observed characteristic from the genetic code

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26
Q

Define alleles.

A

…

27
Q

Define polymorphism.

A

Commonly occurring variant alleles in a population.

28
Q

Define homozygous.

A

…

29
Q

Define heterozygous.

A

…

30
Q

Define co-dominance.

A

Where 2 associated alleles are both expressed independently.

E.g. Blood groups

31
Q

Define overdominance.

A

When heterozygous offspring exhibit traits outside range of homozygous parents.
E.g. Sickle cell disease -

32
Q

Define incomplete dominance.

A

Dominance is incomplete therefore…

33
Q

Define mutation.

A

Change in genetic make up

34
Q

Define somatic mutation.

A

Mutation occurs in non germ ells that lead to difference in genetic make -up

35
Q

Define monosomy.

A

1 Chromosome e.g. Tuners XO

36
Q

Within genetic mutations, define deletion.

A

When there is a deletion of genetic material on a chromosome that can result in loss of function

37
Q

Within genetic mutations, define amplification.

A

When there is a duplication of genetic material within a chromosome

38
Q

Within genetic mutations, define translocation.

A

When there is chromosome rearrangement leading to abnormal gene expression

39
Q

Name the types of genetic mutations that occur at a coding level?

A

Insertion -
Deletion -
Point mutation - substitution on a single codon e.g. Sickle cell

40
Q

Define autosomal recessive.

A

Non sex linked when child is recipient of two recessive alleles and therefore the characteristic will be expressed.

41
Q

Define autosomal dominant.

A

Non sex linked where the presence of the dominant allele will cause the characteristic to be expressed

42
Q

Give an example of an autosomal recessive disorder?

A

Cystic fibrosis
Congenital muscular dystrophy
Sickle cell anaemia

43
Q

Give an example of am autosomal dominant disorder.

A

Huntington’s disease

44
Q

Give an example of an x-linked recessive disorder.

A

Haemophilia - A

45
Q

Give an example of a trisomy disorder.

A

Down’s syndrome, trisomy on 21

46
Q

Define multifactorial disorders.

A

Individual genetic susceptibility + environmental factors = personal liability for multifactorial disorder.

47
Q

Give examples multifactorial disorders.

A 
Diabetes
Atherosclerosis
Schizophrenia
Cancer
Asthma
Peptic Ulcer
Essential Hypertension
48
Q

Define oncogene.

A

Are accelerators involved in cell cycling and cell survival

49
Q

Define tumour suppressor genes.

A

Involved in controlling the cell cycle with repair and induce cell death - the brakes

50
Q

Define proto-oncogenes.

A

Are normal genes involved in pathways controlling cell division

51
Q

What are oncogenes involved in?

A

Growth factors -
Cell cycle regulators -
Receptors -

52
Q

What is p53?

A

Important tumour suppressor

53
Q

Define apoptosis.

A

Programmed cell death

54
Q

Define angiogenesis.

A

Growth of new blood vessels

55
Q

Define metasteses.

A

Spread of cancer to distant sites

56
Q

How do monoclonal antibodies work.

A

Target molecules that

Target cell receptors

57
Q

Where does mitosis occur?

A

In normal cells

58
Q

Where does meiosis occur?

A

In gonadal cells

59
Q

Which cells are haploid?

A

Ova and sperm

60
Q

How many chromosomes are found in a haploid cell?

A

23

61
Q

What are the 3 phases of spermatogeneis?

A

Spermatogonal
Spermatocyte
Spermatid

62
Q

What are the 4 characteristics of sperm which help it deliver its genetic material to the ovum?

A
  • A tail to propel it
  • Complement of mitochondria to provide energy for propulsion
  • Head contains DNA
    Acrosome which contains the
63
Q

Are foetal oocytes haploid or diploid?

A

Diploid

64
Q

In oogenesis, when does Meriosis II happen?

A

On fertilisation

65
Q

When does oogenesis occur

A

Throughout fertile like, from foetus, through infancy and at puberty.

Physiology (12 decks)

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