434 Peters Defs

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Introns

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45 Terms

1

Introns

non- coding parts of an mRNA that are removed by splicing.

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2

Expressivity

degree to which an individual with a given genotype expresses a phenotype.

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3

Pharmacogenes

genes with variants that affect drug pharmacokinetics or pharmacodynamics.

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4

Deoxyribonucleic acid

molecule that contains biological instructions that make each species unique.

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5

Translocation

when part of a chromosome breaks off and attaches to another chromosome.

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6

Structural variants

large- scale deletions or duplications affect drug metabolism.

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7

Heterozygous

individual has two different alleles of a gene.

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8

Pharmacogenomics

how a person's genetic background affects drug response.

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9

MRNA

RNA that is translated into proteins.

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10

Penetrance

% of individuals with a given genotype that express the phenotype.

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11

Mosaicism

cells with varying genetic makeup in the body.

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12

Frameshift

when the gene shifts out of its normal three- frame register.

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13

Biosimilar

term for generic biologics because initial product can not be replicated exactly.

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14

Y linked inheritance:

a disease-associated variant is found on the Y chromosome.

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15

Neoantigens

new proteins found on the outside of tumor cells due to DNA mutations.

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16

ultrarapid metabolizers

Poor, intermediate, normal, and ________: a continuum of individuals with different kinetics of drug metabolism.

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17

Aneuploidy

a change in chromosome number from 46.

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18

Phenotype

observable characteristic of a gene variant.

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19

Insulators

block the effect of enhancers at adjacent genes.

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20

Biomarkers

DNA /RNA /protein features that correlate with disease risk or therapy efficacy.

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21

mismatch repair

DNA ________ (MMR): proteins that correct replication mistakes made by DNA polymerase.

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22

Promoter

DNA sequence that initiates transcription /gene expression.

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23

Proteosome

protein degradation machinery in the cell, often degrades protein aggregates.

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24

Epigenetics

modification of DNA that affects gene expression.

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25

Null allele

gene variant with no activity, results in less drug metabolism for pharmacokinetic genes.

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26

Indel

when insertions and deletions occur at the same time.

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27

Locus

gene or position on the chromosome.

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28

Autosomal dominant inheritance

one altered copy is sufficient to cause a disorder.

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29

Alleles

different variants of the same gene.

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30

Personalized genomics

using genomics to define or predict disease based on individual's DNA sequence or other genome- scale biomarkers.

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31

Copy number variation

________ (CNV): some genomes contain fewer or many more than two genes.

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32

Single nucleotide polymorphism

________ (SNP): a single nucleotide variant in DNA.

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33

Monogenic disease

genetic diseases associated with one gene, or one position on the chromosome.

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34

Whole exome sequencing

selective sequencing of all exons in the genome.

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35

Secondary hypertension

caused by an underlying condition.

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36

Codominant inheritance

two different variants of the same gene are expressed that make different proteins.

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37

Next generation sequencing

approach to determine the sequence of entire human genomes.

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38

Microsatellite instability

small deletions and insertions in microsatellite DNA.

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39

Mitochondrial inheritance

variant occurs in the mitochondrial DNA.

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40

Duplication

when a stretch of nucleotides is copied and repeated next to the original sequence.

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41

Alternative splicing

results in different protein products from the same gene.

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42

Genes

DNA that contains instructions to make proteins and functional RNA

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43

Enhancers

increase gene expression

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44

Gain- of- function

toxic gene variant that causes disease.

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45

DNA mismatch repair deficiency (dMMR):

a defective MMR pathway that leads to the accumulation of mutations.

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