Lecture 10 Genetics Terms

Recombination hotspots

Regions of a chromosome where genetic recombination occurs at a much higher frequency than average.

Recombination coldspots

Regions of a chromosome where genetic recombination occurs at a much lower frequency than average.

Genetic markers

Identifiable DNA sequences with known physical locations used to track inheritance and construct gene maps.

Variable number tandem repeats (VNTRs)

Short nucleotide sequences organized as repeated patterns in DNA that vary in copy number among individuals.

Single nucleotide polymorphisms (SNPs)

Variations in a single nucleotide base pair at a specific location in the genome among individuals.

Restriction fragment length polymorphisms (RFLPs)

Differences in DNA fragment lengths produced by restriction enzymes due to sequence variations.

Restriction endonucleases (restriction enzymes)

Enzymes that recognize specific DNA sequences and cut the DNA at or near those locations.

Restriction fragments

DNA fragments produced when a DNA molecule is cut by a restriction enzyme.

Haplotype

A group of alleles or genetic markers on a single chromosome that are inherited together from one parent.

Allelic phase

The specific arrangement of alleles on each of the two homologous chromosomes in a diploid organism.

LOD score

A statistical estimate of whether two loci are likely located near each other on a chromosome and thus linked.

Theta (θ) value

The recombination frequency parameter used in LOD score calculations to estimate distance between linked genes.

Genome-wide association studies (GWAS)

An observational study scanning genomes of many individuals to find genetic variants associated with specific traits or diseases.

Linkage equilibrium

A state in which alleles at different loci occur together randomly according to their individual frequencies.

Linkage disequilibrium

The non-random association of alleles at different loci in a given population.

CARD15

A gene that encodes a protein involved in immune responses, strongly associated with susceptibility to Crohn's disease.