Flashcards in Pathology L04 Intro to Genetic Pathology 1 Deck (16)
What is the field of cytogenetics concerned with? What aspect of the genome are cytogenetic tests based on?
Concerned with structure, properties and behaviour of chromosomes, chromosome based tests
What relationship is molecular genetics concerned with? What aspect of the genome are the focus of molecular genetic tests?
Relationship between DNA, RNA and polypeptide synthesis, DNA/RNA-based tests
What is epigenetics? What 3 factors influence epigenetics?
The study of heritable change in gene expression that do not involve changes to the underlying DNA sequence. Influenced by age, environment and disease state
What is congenital disease?
Disease that is present at birth
What is genetic disease?
Disease that is caused by chromosome or gene defects
What is inherited disease?
Disease caused by genetic abnormality passed from parent to offspring
What are polygenic genetic disorders?
Multiple genes contributing to the phenotype, each exerting a small effect
What are complex/multifactorial disorders?
Disorders caused by the interaction between variants in multiple genes and the environment. They do not typically follow recognisable inheritance patterns.
What are germ cells?
Germ cells are a population of cells that are deliberately set aside to later form gametes. They originate in the primitive streak and migrate to the developing gonads where they undergo cell division and differentiation to produce sperm and ova.
If half of the male gametes carry a mutation, is it a germline or somatic mutation?
In terms of cancer, what is the significance of germline mutations?
Germline (inherited variants) result in the genetic predisposition to the development of certain cancers
What are the two genes that predispose women to breast/ovarian cancer if they develop germline mutations?
BRCA1 and/or BRCA2
What is a genetic test?
Analysis of DNA, RNA, chromosomes, proteins or metabolites with the aim of detecting genetic alterations associated with disease.
What is a polymorphism?
Variant that is common in the normal population, hence presumed benign.
What are the 5 roles of genetic testing?
Diagnostic, Predictive, Screening, Somatic, Pharmacogenetic