Title: DISCERN - List of terms
Headings: Glossary of genetic terms
Glossary of genetic terms
Affected
Antenatal tests
Anticipation
Autosomal disorders
Autosomes
Biochemical techniques
Carrier
Chromosomal disorders
Chromosomes
Classical inheritance - disorders
Congenital
Cytogenetics
Diagnostic test
DNA (Deoxyribonucleic acid)
Dominant disorders
Expressivity
Gene
Genetic condition
Genetic test
Genome
Genotype
Germ cells
Germline mutation
Incidence
Inherited disease or condition
Karyotyping
Meiosis
Mendelian inheritance - disorders
Mitosis
Molecular biology and genetics
Monogenic disorders
Multi-factorial disorders
Mutation
Neonatal tests
Pedigree
Penetrance
Phenotype
Predictive test (genetic)
Presumptive test (genetic)
Pre-symptomatic test (genetic)
Prevalence
Prognosis
Recessive disorders
Risk
Screening test (genetic)
Sex-linked disorders
Single gene disorders
Somatic cells
Somatic or sporadic mutation
Somatic or sporadic diseases
Trait
X-linked
Y-linked

Content: DISCERN - List of terms
Glossary of genetic terms
This Glossary provides simple definitions of some technical terms relating to genetics and genetic testing which are used in the DISCERN Genetics Tool and Handbook. For more comprehensive listings or detailed descriptions, please refer to the Resources. Affected
Having a disease or condition arising from a genetic mutation
Antenatal tests
Tests conducted during pregnancy to assess the health of the foetus
Anticipation
Increasing severity or earlier onset of a genetic trait, disease or condition with each generation
Autosomal disorders
Genetic diseases or conditions caused by a mutation in a single gene or DNA sequence in the automosomes (non-sex chromosomes)
Autosomes
The chromosomes responsible for non-sex traits
Biochemical techniques
Processes for examining changes in gene products such as enzymes and proteins
Carrier
An individual who has one copy of a faulty recessive gene. They will not usually be affected but they can pass the mutation on to offspring if their partner is also a carrier or if the mutation produces a sex-linked recessive disorder or condition
Chromosomal disorders
Diseases or conditions arising due to mutations in the number or structure of the chromosomes
Chromosomes
The strands of DNA containing genes found in each cell nucleus. Humans have 23 pairs of chromosomes with one chromosome from each parent in each pair
Classical inheritance - disorders
See Single gene disorders
Congenital
Present at birth (but not necessarily genetic)
Cytogenetics
The study of the genetics of the cell. Used to detect chromosomal abnormalities
Diagnostic test
A test for detecting the presence or absence of a disease or condition. Often used following a positive screening test. DNA (Deoxyribonucleic acid)
The material inside the nucleus of cells that carries genetic information
Dominant disorders
Genetic diseases or conditions caused by a mutation on one of the genes in a pair. The single mutated gene dominates. The disease or condition can therefore be inherited from one parent who has the faulty gene
Expressivity
The extent to which a genetic disease or condition is expressed in an individual.