Lecture 2

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30 Terms

1

Chromosome mutation

Alters the number of an entire chromosome, not its sequence.

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2

Subchromosomal mutations

Alters the structure of part of one or more chromosomes, including large duplications, deletions, inversions, and translocations.

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3

DNA mutations

Comprises 'small' changes in DNA sequence, including substitutions, deletions, and insertions of 1-100 kb.

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4

Errors in chromosome segregation

Common occurrences of errors during meiotic divisions, with over 1 error occurring in every 25-50 divisions.

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5

Non-homologous end joining (NHEJ)

A process that joins spontaneous double stranded DNA breaks, which can lead to translocations and inversions.

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6

Non-allelic homologous recombination

Recombinations between related sequences that can cause duplications, deletions, and inversions.

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7

DNA replication mutations

Mutations are rare due to proofreading, occurring at a rate of less than 1 mutation per genome per cell division.

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8

Somatic mutations

Mutations that occur in somatic cells (do not produce gametes) and are found in the descendants of the cells in which the mutation occurred.

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9

Germline mutations

Mutations that occur in germ cells (produce gametes) and are transmitted to offspring, responsible for most inherited genetic diseases.

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10

DNA damage

Approximately 10^4 to 10^6 nucleotides are damaged per cell per day due to mutagens and spontaneous chemical processes.

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11

Spontaneous deamination

The most common type of DNA damage where 5-methylcytosine is converted to thymine at CpG doublets.

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12

Inversions and translocation

Types of alterations that can happen within subchromosomal mutations.

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13

Reference sequence

The most common sequence in a population.

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14

Locus

A segment of DNA occupying a particular location on a chromosome.

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15

Allele

Alternative versions of a locus.

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16

Wild type allele

The most common allele, usually present in > 50% of the population.

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17

Variant (mutant) allele

Less common alleles in a population.

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18

Private allele

Very rare alleles found in a population.

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19

Polymorphism

Alleles with frequency > 1% in a population.

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20

Single-nucleotide Polymorphism (SNP)

Single base pair substitutions that usually have 2 alleles.

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21

Indel

Insertions and deletions, the most common polymorphisms typically ranging from ~1-1000 bp in length.

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22

Copy number variant

Changes in number of copies of DNA segments (~100 to 1 Mb), often spanning multiple genes.

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23

Amorphic alleles

Completely eliminates gene activity (Example: premature stop codon)

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24

Hypomorphic alleles

Reduced gene activity, but not eliminated.

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25

Hypermorphic alleles

Increased gene activity (Example: gene duplication, or deletion in repression sequence)

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26

Antimorphic alleles (dominant-negative)

Produces a "poisoned" product that makes other wild type alleles less effective.

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27

Neomorphic alleles

New function; gene product does something it shouldn't.

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28

Synonymous Mutation

Functionally silent mutations that do not change the amino acid sequence of a protein.

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29

Nonsynonymous Mutation

Mutations that result in a change in the amino acid sequence of a protein.

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30

Frameshift Mutation

Mutations that change the entire reading frame of the genetic code due to insertions or deletions.

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