Week 5. Genetic Variation

Flashcards covering vocabulary and key concepts from the lecture on Molecular Biology and Genetic Variation.

Genetic Variation

The genetic differences both within and among populations.

Polymorphism

Multiple variants (alleles) of any given gene.

Fixed Allele

An allele that is the only variant present at a specific locus in a population.

Human Genome Project (HGP)

A project that ran from 1990 to 2003 aiming to sequence the human genome and study genetic variation.

Coding Sequences

Parts of the genome that code for proteins.

Exons

Regions of genes coding for protein, rRNA, or tRNA.

Introns

Non-coding sections of a gene.

Gene Transfer

Horizontal gene transfer (HGT) refers to the transfer of genetic material between organisms other than by descent.

Mutations

Changes in the DNA sequence that can lead to genetic variation.

Single-Nucleotide Polymorphism (SNP)

A single base pair variation that occurs in a specific location of the genome.

Frameshift Mutation

A mutation caused by the addition or deletion of a base pair that alters the reading frame.

Missense Mutation

A mutation that results in the substitution of one amino acid for another in a protein.

Nonsense Mutation

A mutation that creates a premature stop codon in the protein sequence.

Transposable Elements

Sequences of DNA that can move within the genome.

Insertions

Type of mutation where one or more base pairs are added to the DNA sequence.

Deletions

Type of mutation where one or more base pairs are removed from the DNA sequence.

Copy Number Variation (CNV)

Variations in the number of copies of a particular gene or genomic region.

Simple Sequence Repeat (SSR)

A simple type of DNA sequence that consists of a repeating unit, often used in genetic mapping.

Variable Number Tandem Repeats (VNTR)

A location in a genomic DNA where a short nucleotide sequence is organized as a tandem repeat.

Genome Wide Association Studies (GWAS)

Studies that look for associations between genetic variants and traits across a genome.

Alu Elements

A family of repetitive elements in the human genome, approximately 300 base pairs long.