CH 1 - Information in a Human Genome

This set of flashcards covers essential vocabulary and concepts from the genetics lecture, including molecular processes, cellular biology, inheritance patterns, and modern genomic technologies.

Genetics

The study of traits and conditions that are encoded in building block sequences of the molecule deoxyribonucleic acid (DNA) and their variations

Precision Medicine

An approach in healthcare that aims to prevent and treat disease based on individual differences in gene variants and considers DNA information to select treatments for a specific patient

Genetic Genealogy

The study of how people are related and where their ancestors lived, comparing information from DNA sequences and evidence

Heredity

The transmission of traits and biological information between generations

Genes

Units of heredity that contain the biochemical instructions that tell cells how to manufacture certain proteins

Genome

The complete set of genetic instructions characteristic of a type of organism, of which humans contain $2$ copies

Exome

The approximately $1\text{\%}$ of the genome that encodes proteins

Genomics

A field where researchers analyze and compare genomes

Bioethics

A field that addresses ethical concerns that arise from the use of genetic technologies

Nitrogenous Bases

Chemical units including Adenine (A) and Thymine (T) + Cytosine (C) and Guanine (G) which are held together by hydrogen bonds

DNA Replication

The construction of a new DNA double helix using the parental strand nucleotide sequence as a template

Transcription

A process that copies the sequence of part of one strand of a DNA molecule into a messenger RNA (mRNA)

Translation

A process where each three RNA bases in a row of a mRNA attract tRNA to bring in a particular amino acid to form a protein

Cystic Fibrosis

A disease where the protein cystic fibrosis transmembrane conductance regulator (CFTR) does not work, resulting in the secretion of thick mucus and impaired breathing

Cystic Fibrosis Cause

Glycine is replaced with aspartic acid at a specific site, closing a type of ion channel that enables secretion

Mutation

A change in a gene

Allele

An alternate (variant) form of a gene

Chromosomes

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

Somatic Cell

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

Autosomes

Chromosomes that do not have any genes that determine sex, numbered $1-22$

Sex Chromosomes

Chromosomes that include genes that specify sex, known as X and Y

Karyotypes

A size-order chart of chromosome pairs

Mendelian Trait

A trait caused predominantly by a single gene

Complex Traits

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

Number of Cells in Human Body

Approximately $30$ trillion cells

Differentiation

The specialization of distinctive cell types through the use of subsets of genes to manufacture proteins

Tissue

An aggregate of cells with a shared function

Organs

Structures formed when tissues intertwine and layer

Stem Cells

Unspecialized cells that can divide to yield another stem cell (self-renew) and a cell that differentiates

Genotype

The underlying DNA instructions and alleles present

Phenotype

The visible trait, biochemical change, or effect on health and the alleles expressed

Dominant Allele

A gene variant that is expressed when present in even one copy

Recessive Allele

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

Pedigrees

A chart of symbols connected by lines depicting genetic relationships and trait transmission in a family, where the percent of DNA sequence shared is halved at each generation

Gene Pool

All the alleles in a population

DNA Profiling

A group of biotechnologies detecting differences among individuals to identify them, using repeats, single nucleotide polymorphism patterns, and genome sequencing

Biobank

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

Microbiome

All of the organisms that live in and on another organism

Pharmacogenetics

Testing for variants of a gene that affect the metabolism of a specific drug based on individual patient needs

Genetic Modification

Altering a gene or genome in a way that does not occur in nature, such as providing a carrot with a gene from a green bean

Recombinant DNA Technology

The process of adding genes from one type of organism to the cells of another

Genome Editing

A modern method involving double-stranded breaks in the DNA double helix to enable the insertion or removal of a specific DNA sequence

Exome Sequencing

Analyzing the $2\text{\%}$ of the genome sequence that determines the order of DNA bases for parts encoding proteins

Metagenomics

Sequencing all of the genomes present in a sample of a particular environment to simplify an invisible living world

Genetic Prospecting

Collecting DNA from organisms unique to a nation that have potential industrial use, such as antibiotics, limited by the Nagoya Protocol