Table 2.

Concepts in Human Genetics

The human genome

Genomic organization

Chromatin and chromosome structure

Human genetic variation, polymorphisms

Molecular basis of inherited disease

Deletion, duplication, and insertion mutations

Missense, nonsense, null, and frameshift mutations

Mutations affecting RNA splicing and stability

Mutations altering transcription

Patterns of inheritance

Autosomal dominant and recessive disorders

De novo mutations

Consanguinity

Sex-linked disorders

X inactivation

Multifactorial inheritance

Mitochondrial inheritance

Nonclassical patterns of single gene inheritance

Mosiacism

Imprinting

Uniparental disomy

Trinucleotide repeat disorders

Expression of phenotypes

Penetrance and variable expressivity

Anticipation

Genetic, allelic, and locus heterogeneity

Quantitative genetics

Population genetics, Hardy-Weinberg equilibrium

Laws of probability, Bayesian analysis

Linkage analysis