Genetics and Humans

These flashcards cover key vocabulary and concepts discussed in the lecture on genetics and human studies.

De novo mutations

Mutations that occur spontaneously during gametogenesis or embryonic development and are not inherited from parents.

Pedigree analysis

A familial genetic analysis method used to determine the inheritance patterns of traits over generations.

Genome-wide association studies (GWAS)

A method that compares the genomes of thousands of unrelated individuals with a particular disease to those without the disease to identify genetic variants associated with disease risk.

Linkage disequilibrium

The non-random association of alleles at different loci in a given population; it indicates that certain alleles are inherited together more often than expected.

Heterozygosity

The presence of different alleles at a gene locus; important for understanding recessive mutations and their effects.

Polygenic diseases

Diseases that are influenced by multiple genes, each contributing a small effect to the overall risk of developing the disease.

Replication errors

Mistakes that occur during DNA replication, which can lead to mutations; estimated at a rate of 1 x 10^-10 nucleotides.

Loss-of-heterozygosity (LOH)

A phenomenon where one allele of a gene is lost, which can result in a recessive mutation being expressed phenotypically.

Association studies

Research studies that look for correlations between genetic variants and specific traits or diseases in a population.

Trios studies

Genetic studies that involve analyzing parents and their offspring to identify de novo mutations.