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Phase 1 > IMMS > Flashcards

IMMS Flashcards

Introduction to Medicine and Medical Sciences

1
Q

What is the difference between prokaryotes and eukaryotes

A

Prokaryotes have no nuclear membrane, all DNA in a single chromosome

Eukaryotes have their DNA within a nucleus. Some DNA in mitochondria

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2
Q

Functions of DNA

A

Template for Transcription and Translation

Basis of Genetic Disease

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3
Q

What is Mitosis

A

Process of cell division that creates 2 genetically identical daughter cells

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4
Q

What are the phases of the cell cycle?

A

G1
S
G2
Mitosis

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5
Q

What happens during G1?

A

Cell grows in size

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6
Q

What happens during G2?

A

Proteins that are needed for cell division are produced

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7
Q

What happens during S phase?

A

DNA replication

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8
Q

What are the stages of Mitosis? (5)

A 
Prophase
Prometaphase
Metaphase
Anaphase 
Telophase
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9
Q

What happens during Prophase?

A

Chromatin condenses into chromosomes

Centrosomes move to opposite poles of the cell

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10
Q

What happens during Prometaphase?

A

Nuclear membrane disintegrates

Spindle attaches to Chromatids

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11
Q

What happens during Metaphase?

A

Chromatids line up at the equator of the cell

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12
Q

What happens during Anaphase

A

Chromatids get separated and move to opposite poles of the cell

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13
Q

What happens during Telophase

A

Nuclear envelope reforms

Chromosomes unfold into Chromatin

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14
Q

Differences between Meiosis and Mitosis

A

Mitosis is in Somatic Cells, Meiosis is in Gametes
Meiosis has 2 cell divisions, Mitosis has 1
Mitosis creates 2 genetically identical daughter cells, Meiosis creates 4 genetically different daughter cells.

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15
Q

When does Crossing Over occur

A

Prophase I

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16
Q

How is genetic diversity produced in Meiosis

A

Independent Assortment

Crossing Over

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17
Q

What is the process of maturation for a sperm cell (3)

A

Primordial Germ Cells -> Mitoses -> Spermatogonia

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18
Q

Difference between Egg cell production and Sperm cell production

A

After Meiosis II for Sperm cell, 4 EQUAL gametes
After Meiosis II for Egg Cell, 1 Gamete and 3 Polar Bodies

Meiosis I occurs for egg cell pre birth of female, whereas meiosis initiates during puberty for male

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19
Q

What is the process of maturation for an Egg cell

A

Primordial Germ Cells -> 30 Mitoses -> Oogonia

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20
Q

What is non-disjunction

A

Failure of Chromosome pairs to separate during Meiosis I, or Sister Chromatids to separate during Meiosis II

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21
Q

What is Gonadal Mosaicism

A

Occurs when precursor germline cells to Spermatazoa are a mixture of two or more cell lines

i.e one cell line is mutated and one is not - some sperm will have a mutation and others won’t (or eggs)

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22
Q

Why does the risk of Gonadal Mosaicism increase with paternal age

A

Increasing time = Increasing chance of mutation

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23
Q

Where is DNA found

A

Nucleus AND MITOCHONDRIA

24
Q

What are the stages of coiling in DNA?

A

Nucleosomes -> Supercoils -> Chromosomes

25
Q

Describe the process of DNA replication (5)

A

TOPOISOMERASE uncoils the DNA

DNA Helicase breaks the H bonds between CBP, 2 strands are held apart SSb

DNA polymerase lines up complimentary free nucleotides along the separated strands in an antiparallel 5’ to 3’

Leading Strand 5’ -> 3’ is synthesised in a continuous fashion

Lagging strand 3’ to 5’ is synthesised in pieces called Okazaki fragments joined by DNA ligase

26
Q

Differences between RNA and DNA

A 
DNA is double stranded
DNA has a deoxyribose sugar
RNA is single stranded 
RNA has a Ribose sugar
RNA has U instead of a T
27
Q

By what process is mRNA made

A

Transcription

28
Q

What is rRNA used for

A

4 types of rRNA combine with each other to form 80s Ribosomes

29
Q

What is the function of tRNA

A

Carries an anti-codon complimentary to triplet codon, which is also attached to an Amino Acid

30
Q

4 features of DNA

A

Unambiguous - one codon for one AA, one AA has more than one codon

Degenerate - 3 bases for a codon

Non overlapping - Successive triplets read in order

Universal

31
Q

What is an alternative version of a gene called

A

Allele

32
Q

What is a polymorphism

A

Variation in an allele from person to person

33
Q

Structure of a gene

A

Promoter region - switches the gene on

Exons - coding regions of DNA

Introns - non coding regions

34
Q

What is splicing

A

Removal of introns from pre-mRNA

35
Q

what is alternative splicing

A

Splice site varies - different proteins can therefore be made

36
Q

What is a splice site variant

A

The position along the base sequences at which splicing occurs changes

37
Q

What is a Non-Sense mutation

A

Codon is changed to a STOP CODON

Caused by out of frame deletion

38
Q

Mis-Sense mutation?

A

Single base substitution which changes type of AA

39
Q

What is Allelic Heterogeneity?

A

Lots of different variations of one gene

40
Q

What is Locus Heterogeneity?

A

Variants in different gene give the same clinical conditions

41
Q

What is a mutation?

A

Damage to DNA sequence

42
Q

What are the causes of mutation

A

Environmental (Radiation, Chemical, Thermal)

Spontaneous change

43
Q

Ways in which a dominant mutation effects normal function? (3)

A
  1. ) Loss of Function - Changes in the amount of protein produced affect very sensitive pathways - stops working
  2. ) Gain of Function - Increased protein production
  3. ) Dominant Negative Mutations - Protein from mutant allele interferes with protein from normal allele
44
Q

Causes of disease (3)

A

Genetic
Environmental
Multifactorial ( most common)

45
Q

What is a Genomic disorder?

A

A condition that results from STRUCTURAL CHANGE to the genome, rather than DNA base change

46
Q

What is Lyonisation?

A

Only 1 of 2 allele active - therefore recessive alleles can be expressed even if heterozygous

47
Q

What are the categories of genetic disorder (4)

A

Chromosome Abnormality
Single gene
Polygene
Multifactorial

48
Q

Common chromosome structural abnormalities (7)

A

Reciprocal - Transfer of Genetic material

Robertsonian Translocation - Joining of 2 chromosomes

Deletions - loss of part of a chromosome

Insertions - 1 section of a chromosome is inserted into another

Inversions - Segments of chromosome is reversed

Ring Chromosomes - Breaks occur in arms of chromosomes, and so chromosomes bind

Fragile site - Gap in chromosome which is likely to break

49
Q

What are the 2 types of mosaicism

A

Gonadal

Somatic

50
Q

What is somatic mosaicism

A

Genetic disorder confined to a part of the body, due to mutation in early development

51
Q

What is penetrance

A

% of individuals with a specific genotype showing the expected phenotype

52
Q

What is expressivity

A

Range of phenotypes expressed by a specific phenotype

53
Q

What is anticipation

A

Where genetic disorders affect successive generations earlier or more severely than expected

54
Q

What is the role of the nucleolus

A

Synthesise rRNA

55
Q

What are the two types of DNA found in a cell

A

Euchromatin

Heterochromatin

56
Q

If a cell is active it will contain what type of DNA

A

Euchromatin

57
Q

If a cell is inactive, it will contain what type of DNA

A

Heterochromatin - will stain dark

Phase 1 (4 decks)

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