434 Peters Defs

Introns

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

Expressivity

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

Pharmacogenes

genes with variants that affect drug pharmacokinetics or pharmacodynamics.

Deoxyribonucleic acid

molecule that contains biological instructions that make each species unique.

Translocation

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

Structural variants

large- scale deletions or duplications affect drug metabolism.

Heterozygous

individual has two different alleles of a gene.

Pharmacogenomics

how a person's genetic background affects drug response.

MRNA

RNA that is translated into proteins.

Penetrance

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

Mosaicism

cells with varying genetic makeup in the body.

Frameshift

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

Biosimilar

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

Y linked inheritance:

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

Neoantigens

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

ultrarapid metabolizers

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

Aneuploidy

a change in chromosome number from 46.

Phenotype

observable characteristic of a gene variant.

Insulators

block the effect of enhancers at adjacent genes.

Biomarkers

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

mismatch repair

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

Promoter

DNA sequence that initiates transcription /gene expression.

Proteosome

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

Epigenetics

modification of DNA that affects gene expression.

Null allele

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

Indel

when insertions and deletions occur at the same time.

Locus

gene or position on the chromosome.

Autosomal dominant inheritance

one altered copy is sufficient to cause a disorder.

Alleles

different variants of the same gene.

Personalized genomics

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

Copy number variation

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

Single nucleotide polymorphism

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

Monogenic disease

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

Whole exome sequencing

selective sequencing of all exons in the genome.

Secondary hypertension

caused by an underlying condition.

Codominant inheritance

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

Next generation sequencing

approach to determine the sequence of entire human genomes.

Microsatellite instability

small deletions and insertions in microsatellite DNA.

Mitochondrial inheritance

variant occurs in the mitochondrial DNA.

Duplication

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

Alternative splicing

results in different protein products from the same gene.

Genes

DNA that contains instructions to make proteins and functional RNA

Enhancers

increase gene expression

Gain- of- function

toxic gene variant that causes disease.

DNA mismatch repair deficiency (dMMR):

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