Studied by 0 people
Looks like no one added any tags here yet for you.
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.
Note 
Flashcard (65)