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Genetics > Week 4- Mutation and Polymorphism > Flashcards

Week 4- Mutation and Polymorphism Flashcards

1
Q

How much of DNA is identical b/w individuals?

A

99.9%

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2
Q

What is a mutation?

A

Any change in nucleotide sequence or DNA arrangement

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3
Q

What is a genome mutation?

A

Creates aneuploidy
Alters the number of chromosomes in a cell
Affects 100’s to 1000’s of genes

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4
Q

What is a chromosome mutation?

A

alter structure of individual chromosome

Affects 100’s of genes

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5
Q

What is a gene mutation?

A

Alters gene

Range from single nucleotide to millions of bp

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6
Q

What is a mutation that occurs during gamete formation- perpetuated to offspring

A

Germ-line mutation

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7
Q

What is mutation that creates somatci mosaicism- not transferred to offspring

A

Somatic mutation

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8
Q

What causes genome mutations?

A

mis-segregation causing monosomy or trisomy

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9
Q

Why are chromosome mutations rarely perpetuated?

A

Normally incompatible with survival- usually happens after someone is born

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10
Q

What causes gene mutations?

A

BP substitution
Insertions
Deletions

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11
Q

What are two mechanisms of gene mutations?

A

DNA replication errors

Problems during DNA repair

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12
Q

What are the three main classes of types of gene mutation?

A

Nucleotide substitution
Deletions and Insertions
Dynamic Mutations

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13
Q

What are the types of Nucleotide substitutions?

A

Missense
Chain termination
RNA processing

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14
Q

What is a point mutation that alters the triple- replaces one aa with another

A

missense mutation

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15
Q

What are common disorders caused by missense mutations?

A

Hemoglobinopathies

ex- sick cell anemia

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16
Q

What type of mutation causes a normal codon to become a termination codon?

A

Chain termination mutation

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17
Q

What is a mutation at an intron/exon boundary that interferes with or abolishes normal RNA splicing?

A

RNA processing mutation

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18
Q

What is a frameshift mutation?

A

A small insertion or deletion that is not in a multiple of 3

19
Q

What are two disorders with large deletions and insertions?

A

Duchenne MD and alpha thalassemias

20
Q

Are insertions or deletions more common?

A

Deletions

21
Q

What does LINE stand for?

A

long interspersed nuclear elements

22
Q

What are some effects of recombination?

A

Deletion or duplication by recombindation

23
Q

What is an example of a condition caused by recombination?

A

Familial Hypercholesterolemia

24
Q

What are recombination mutations usually due to?

A

Unequal crossing over

25
Q

What are examples of conditions caused by unequal crossing over?

A

Deletion of alpha globin genes in some alpha thalassemias, colorblindness

26
Q

What is a dynamic mutation?

A

Involve amplification of trinucleotide repeat sequences

27
Q

Where does the repeat in a dynamic mutation happen?

A

Gametogenesis

28
Q

Can mutations be beneficial?

A

Yes- or neutral; not all are deleterious

29
Q

Where is variation greater- coding or non-coding regions?

A

Non-coding regions

30
Q

What is a variant found in >1% of population?

A

Genetic polymorphism

31
Q

What is a rare variant?

A

Variant found in <1% of population

32
Q

Where does a SNP occurs?

A

2 alleles- 2 bases in a particular location

33
Q

What is the total number of variant positions b/w 2 people?

A

10 million

34
Q

What is- stretches of DNA with units of 2-4 nucleotides repeated many times?

A

Microsatellites

35
Q

What are tandem insertion of varying numbers of copies of 10-100 bp sequence
?

A

Minisatellites

36
Q

What are Variation in number of copies of larger genome segment (200 - 2,000,000 nucleotides)?

A

Copy number polymorphisms (CNPs)

37
Q

What chromosome determines blood type?

A

Locus on chromosome 9

38
Q

How many alleles determine blood type?

A

3 alleles

39
Q

What encodes Rh factor and where is it found?

A

RHD gene on chromosome I

40
Q

What prevents hemolytic disease?

A

RhoGam- clears Rh+ cells before mom is sensitized

41
Q

Where is MHC located?

A

Large gene cluster on short arm of chromosome 6

42
Q

How many classes of genes are there for MHC?

A

3 classes of genes

43
Q

What do class I MHC genes (HLA-A, HLA-B, HLA-C) code for?

A

Integral proteins of the plasma membrane= present to CD8+ T cells

44
Q

What do MHC class II genes (HLA-DP, HLA-DQ, HLA-DR) code for?

A

Integral proteins that present exogenous antigens to CD4+ T cells

Genetics (10 decks)

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