Genetics and Genomics Lecture Notes

A comprehensive set of flashcards covering key concepts from the lecture notes on genetics and genomics.

genome

The complete set of genetic instructions in the cells of a type of organism.

genome editing

Creating double-stranded breaks in the DNA double helix, enabling insertion or removal of a specific DNA sequence.

genomics

The field that analyzes and compares genomes.

genotype

The allele combinations in an individual that cause traits or diseases.

guanine (G)

One of the four types of nitrogenous bases in DNA and RNA.

heredity

Transmission of inherited traits from generation to generation.

karyotype

A size-order chart of chromosome pairs.

Mendelian trait

A characteristic specified by expression of one gene, with a transmission pattern in accordance with Mendel's law of segregation.

metagenomics

Sequencing all of the genomes present in a sample of a particular environment.

microbiome

All of the organisms that live in and on another organism.

mutation

A change in a DNA sequence that affects the phenotype and is rare in a population.

nitrogenous bases

The nitrogen-containing bases that carry information in DNA or RNA.

nucleus

A structure in a nondividing cell that houses DNA.

pedigree

A chart of symbols connected by lines that depicts genetic relationships and transmission of inherited traits in a family.

pharmacogenetics

Testing for a gene variant that affects metabolism of a specific drug.

phenotype

The expression of a gene in traits or symptoms.

recessive

An allele that must be present on both chromosomes of a pair to be expressed.

recombinant DNA technology

Adding a gene from one species to the genome of another, to program production of a desired protein or trait.

ribonucleic acid (RNA)

A nucleic acid whose bases are A, C, U, and G.

sex chromosome

A chromosome including genes that specify sex.

somatic cell

A non-sex cell, with 23 pairs of chromosomes in humans.

stem cell

A cell that can divide to yield another stem cell and differentiate.

thymine (T)

One of the four types of nitrogenous bases in DNA.

tissue

Aggregate of cells with a shared function.

transcription

Manufacturing complementary RNA from a gene on a strand of DNA.

translation

Assembly of an amino acid chain according to the sequence of base triplets in a molecule of mRNA.

uracil (U)

One of the four types of nitrogenous bases in RNA.

allele

An alternate (variant) form of a gene.

autosome

A chromosome that does not have any genes that determine sex.

biobank

A facility or resource that stores DNA sequence and other data for use in research.

bioethics

A field addressing personal and societal issues that arise in applying medical technology and using genetic information.

chromosome

A highly wound, continuous molecule of DNA and the proteins associated with it.

complex trait

A phenotype caused by one or more genes and an environmental influence.

cytosine (C)

One of the four types of nitrogenous bases in DNA and RNA.

deoxyribonucleic acid (DNA)

The genetic material; the biochemical that forms genes.

differentiation

The specialization of distinctive cell types through expressing subsets of genes.

DNA profiling

Technologies that detect differences among individuals used for identification or ruling out relationships.

DNA replication

Construction of a new DNA double helix using the parental strand nucleotide sequence as a template.

dominant

A gene variant expressed when present in one copy.

exome

The approximately 1 percent of the genome that encodes proteins.

gene

A section of a DNA molecule whose sequence instructs a cell to produce a particular protein.

gene expression

The transcription of mRNA molecules from a gene.

gene pool

All the alleles in a population.

genetic genealogy

Comparing DNA sequences among individuals to determine relatedness and geographic origins.

genetics

The study of inherited traits and their variation.

metagenomics

Analyzes the DNA from environments, including the human body.

genetic predisposition

A genetic influence on an individual’s likelihood of developing a trait or disorder.

environmental influence

Factors external to the genome impacting health or development.

RNA (ribonucleic acid)

A nucleic acid essential for the coding, decoding, regulation, and expression of genes.

somatic cell

Any cell of the body except sperm and egg cells.

DNA sequencing

The process of determining the specific sequences of the nucleotides in a DNA molecule.