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Genetics > Mutation, Variation and Genome organisation > Flashcards

Mutation, Variation and Genome organisation Flashcards

1
Q

What is population genetics?

A

The study of genetic variation in population

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2
Q

How is population used?

A 
To understand:
how natural selection operates
genetic disease 
human origins and evolution
help conservation biology
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3
Q

Who came up with the first theory of inheritance?

A

Jean baptiste de lamark, inheritance of acquired characters

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4
Q

What are mutations?

A

The failure to store genetic information faithfully, can affect whole chromosome or single genes, spontaneous or induced, harmful neutral or beneficial.

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5
Q

What is the source of all genetic variation?

A

Mutation

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6
Q

What are the causes of induced mutation?

A

UV, X rays,

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7
Q

What is a mutagen?

A

Anything that increases chemical reactivity in the cell

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8
Q

How many pairs of chromosomes in humans?

A

23, Diploid

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9
Q

What are the different types of chromosome variation?

A 
Polyploidy
Aneuploidy
Translocations
Deletions
Inversions
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10
Q

What is Polyploidy?

A

Have more than two sets of chromosomes, for example by dispermy. Results in 3 complete sets of chromosomes. Always lethal in humans. More common in plants

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11
Q

What is a monoploid?

A

One set of chromosomes

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12
Q

What is aneuploidy?

A

When one set of chromosomes is incomplete, e.g. one missing or extra is present

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13
Q

What is nullisomy in autosomes?

A

Both members of the pair are missing - Lethal

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14
Q

What is monosomy in autosomes?

A

One member of the pair is missing - lethal

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15
Q

What is trisomy in autosomes?

A

One extra chromosome - usually lethal

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16
Q

What is an example of a condition caused by trisomy?

A

Does syndrome , extra chromosome 21

17
Q

What is the affect of lacking a somatic chromosome?

A

45X -Turners syndrome, infertile

45Y - Inviable

18
Q

What is the affect of gaining an extra somatic chromosome?

A

Minor effects

19
Q

What are translocations?

A

Exchange of points between non homologus chromosomes. Carriers are normal, but offspring can have the wrong number of copies of each chromosomes, usually lethal

20
Q

What are deletions?

A

Part of chromosome is missing, only one copy of the gene in that region, severity depends on size of region

21
Q

What are Inversions?

A

Often have no effect on phenotype, balanced out, may cause problem in meiosis

22
Q

How large is the human genome?

A

3 Billon bp

23
Q

What is the genetic code?

A

3 nucleotides = codon, codon =amino acid

24
Q

What percentage of genes in human genome code for proteins?

A

1.5%

25
Q

What are silent substitutions?

A

doesn’t change encoded amino acid, synonymous

26
Q

What are replacement substitutions?

A

Code for a different amino acid - non-synonymous

27
Q

What effect do insertions and deletions have?

A

Different protein encoded due to shift in open reading frame

28
Q

What are SNPs?

A

Single nucleotide Polymorphs - change in the single nucleotide of the sequence

29
Q

What is satellite DNA?

A

Consists of very large arrays of tenderly repeating non coding DNA, main component of functional centrosomes

30
Q

What are microsatellites and how are they used?

A

Smaller sequences, Have a higer mutation rate, used as genetic markers
used in finding genetic disease, conservation genetics, evolutionary genetics and agriculture

31
Q

Are Somatic mutations Heritable?

A

No

32
Q

Are Gametic mutations Heritable?

A

Yes

33
Q

What is the severity of gametic mutations?

A

Severe

34
Q

What is the severity of somatic mutations?

A

Mild

35
Q

Do gametic mutations affect all cells?

A

Yes

36
Q

Are somatic mutations affect all cells?

A

No

Genetics (10 decks)

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