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Y1 Principles > Genetics > Flashcards

Genetics Flashcards

1
Q

How many chromosomes does a normal cell have

A

46 chromosomes
23 pairs
22 autosomal pairs +XY

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2
Q

What are acrocentric chromosomes

A

They have no short arm

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3
Q

What are chromosomes made up of

A

Long arm
Short arm
Centromere
Temomeres on either end

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4
Q

What is a balanced mutation

A

All chromosomal info still present

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5
Q

What is an unbalance mutation

A

Extra/missing material after mutation

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6
Q

What is aneuploidy

A

When there is a WHOLE extra or WHOLE missing chromosome

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7
Q

What is Down syndrome

A

Trisomony of chromosome 21

An extra chromosome 21

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8
Q

What is a robertsonian translocation

A

Two acrocentric chromosomes (no short arm) going together

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9
Q

Edwards syndrome

A

Trisomy of chromosome 18

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10
Q

What is Turner syndrome

A

“turn her into a man”
Only one X chromosome
45 chromosomes

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11
Q

Triple X syndrome

A

Woman has 47 chromosomes

3 X chromosomes

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12
Q

What is diGeorge syndrome

A

Missing genes in chromosome 22

Distinct clinical features

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13
Q

PCR stages

A

heated to 100 degrees denatures DNA
cooled to 50 degrees to allow primers to bind
Heated to 72 degrees which is optimum temp for tax polymerase

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14
Q

What is an SNP

A

Single nucleotide polymorphism

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15
Q

What is a polymorphism

A

Any genetic variation that doesn’t cause disease in its own right
However may predispose to disease

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16
Q

What is DNA methylation

A

Methyl bound to DNA to prevent transcription

Can cause gene silencing

17
Q

What is imprinting

A

Differences in gene expression depending on whether the gene was maternally or paternally inherited
Other gene is silenced by methylation

18
Q

Mitochondrial inherited disease

A

Maternally inherited

Heteroplasmy - different daughter cells contain different proportions of mutant mitochondria - can’t know severity

19
Q

What is somatic mosaicism mutation inheritance

A

One cell is mutated and all subsequent cells produced from this cell have mutation

20
Q

Mitosis stages

A 
IPMAT 
Prophase 
Metaphase 
Anaphase 
Telophase 
Interphase
21
Q

Cell cycle stages

A

G1- growth
S - DNA replication and growth
G2- growth
M- check point then mitosis (IPMAT)

22
Q

What direction does DNA polymerase work in

A

5’ to 3’

23
Q

Introns contain genetic info true/false

A

False
Exons contain genetic info
Introns spliced out

24
Q

What is knudson’s two hit hypothesis

A

Cancer as a result of two hits
1st hit = genetic predisposition
2nd hit = acquired risk factors

25
Q

What ways can DNA be repaired

A

Cell cycle checkpoints

Mismatch repair complex

26
Q

What is symptomatic testing

A

Testing to find cause of disease

27
Q

What is pre-symptomatic testing

A

relative has known mutation

Testing for mutation without patient having symptoms

Y1 Principles (8 decks)

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