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Medicine Term One > Chromosome abnormalities > Flashcards

Chromosome abnormalities Flashcards

1
Q

What are three different forms of chromosome abnormalities

A

Numerical
Structural
mutational

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2
Q

What is the most common numerical chromosome

A

Trisomy (extra chromosome)

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3
Q

What is a chromosomal monosomy abnormality and an example

A

One less chromosome

eg Turners 45x

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4
Q

Where does most numerical abnormalities occur

A

Non disjunction in meiosis

and Unbalanced Robertsonian translocation

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5
Q

What is caused by a trisomy of 21

A

Down syndrome

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6
Q

What is Patau syndrome

A

47 + 13

Mental retardation

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7
Q

What is Edwards syndrome

A

47 + 18

development problems

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8
Q

What is sex linked numerical abnormalities and what genders display them

A

Males - Kinefelter syndrome 47 XXY
Females - Turner syndrome 45 X
both cause infertility

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9
Q

What can structural abnormalities be due to

A

Transloction
Deletions
Insertions
Inversions

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10
Q

What are the different translocations

A

Reciprocal either balanced or unbalanced

Robertsonian

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11
Q

What is the difference between balanced and unbalanced rearrangement

A

Unbalanced rearrangment results in partial trisomy

as there is an unequal copy of information between the two new derivatives formed

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12
Q

What is reciprocal translocation and where would this most likely occur in cell division

A

involving breaks in two chromosomes with formation of two new derivative chromosomes
chiasma at metaphase

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13
Q

How can unbalanced translation occur

A

If normal chromosome parent combine with chromosome of parent 2 with balanced translocation

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14
Q

What happens in Robertsonian

A

fusion of two acrocentric - where the centromere is located quite near one end - chromosomes resulting in two combined chromosomes

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15
Q

How does robertsonian translocation cause trisomy and monosomy

A

As the fused acrocentric chromosome means there is either extra or less chromosome material passed on from unbalanced gametes to form trisomy/monosmy zygotes

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16
Q

What are the two forms of inversion and whats the difference

A

paracentric inversion -

pericentric inversion - involves centromere

17
Q

What are the five acrocentric chromosomes

A

13 14 15 20 21

18
Q

What happens in deletion

A

there is a break in the chromosome

19
Q

What can a genetic mutation either be

A

somatic or germline

20
Q

Define polymorphism

A

Change in genotype but to phenotypic effect

21
Q

What are four types of coding mutations

A

silent - Base change but codes for same amino acid
missense - base changes and codes for new amino acid
nonsense - base change causes a stop to process i.e. codon prevent amino acid being formed
frameshift - either deletion or insertion of a base

22
Q

What is point mutation of base pair of a purine to purine called

A

Transition

23
Q

What is a point mutation of a Purine to pyrimidine called

A

Transversion

24
Q

What are five methods of detecting mutations

A

Polymerase chain reaction (PCR)
Gel electrophoresis
Restriction fragment length polymorphism (RFLP) analysis
Amplification refractory mutation system (ARMS)
DNA sequencing

25
Q

What is needed for PCR

A

DNA polymerase
DNA
Nucleotides

26
Q

What are the steps of PCR

A
  1. Denature (high temp)
  2. Anneal (low temp)
  3. extend (70-75 temp)
  4. Gel electrophoresis
27
Q

What does Gel electrophoresis do

A

Separate DNA fragments by size

28
Q

What is the movement of DNA in Gel electrophoresis

A

DNA negatively charged, applying an electric field moves to positive charge

29
Q

What is the advantages of PCR and Gel electrophoresis

A

Speed
Ease of use
Sensitive
Robust

30
Q

How is ARMs applied

A

PCR reaction using fluorescent primer either wild type or mutant to see if mutation present, if present with mutant primer causes amplification

31
Q

What is Restriction endonucleases

A

Enzymes from bacterial cells that cleave DNA

32
Q

What does RFLP use (restriction fragment length polymorphism)

A

Restriction endonuclease cutting PCR DNA,

33
Q

How do we know it mutant present using RFLP

A

If mutant fragment present will show up on restriction digest assay

34
Q

What can RFLP used to diagnose?

A

sickle cell anaemia

35
Q

In DNA sequencing what is a chain terminated by

A

dideoxynucleotides

36
Q

How do dideoxynucleotides terminate a DNA sequence

A

DNA polymerase cant recognise them so chain is stopped

37
Q

What is the least suitable method for detecting whether an individual is a carrier of sickle cell anaemia

A

Karyotyping

38
Q

Why cant a karyotype show a point mutation

A

as shows whole chromosome

Medicine Term One (59 decks)

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