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: The initial mutation may be a random or sporadic event, but it may be passed to offspring and becomes hereditary from then on. Incidence
The number of new cases of a disease or condition in a population over a certain period of time
Inherited disease or condition
A disease or condition that has been passed on through the genes of biological parents
Karyotyping
A microscopy process for examining the number and shape of chromosomes within a cell
Meiosis
A process of cell division occurring in the sex cells (germ cells) which reduces the number of chromosomes by half in preparation for reproduction. A normal embryo will get a set of 23 chromosomes from each parent. Meiosis occurs only once between generations. Mendelian inheritance - disorders
See Single gene disorders
Mitosis
An ongoing process of cell division which enables the body to grow and repair itself. Each non-sex cell (somatic cell) divides into two new cells which each contain a duplicate set of chromosomes
Molecular biology and genetics
Submicroscopy techniques for examining changes at the level of a single gene or DNA segment
Monogenic disorders
See Single gene disorders
Multi-factorial disorders
Conditions or diseases arising from a combination of genetic and non-genetic causes, including environmental factors
Mutation
A permanent change in DNA
Neonatal tests
Tests conducted at birth to assess the health of newborn babies
Pedigree
A symbolic representation of disease transmission through families
Penetrance
The chance of being affected by a genetic trait or condition if the mutation has been inherited. Often expressed as the percentage of individuals with a certain genotype who express its phenotype. Phenotype
A physical characteristic or feature (also known as a trait). It is determined by genotype, but is also influenced by environment and sporadic genetic mutations
Predictive test (genetic)
A test used to detect the presence of a genetic mutation in individuals who are currently well but who may be at risk of developing a genetic disease or condition
Presumptive test (genetic)
See Predictive test
Pre-symptomatic test (genetic)
See Predictive test
Prevalence
The total number of cases of a disease or condition in a population over a certain period of time
Prognosis
The predicted course and outcome of a disease
Recessive disorders
Genetic disease or condition caused by a mutation on both genes in a pair (homozygous). The disease or condition only arises when both parents pass on a copy of the faulty gene.