Pathology L04 Intro to Genetic Pathology 1 Flashcards Preview

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Flashcards in Pathology L04 Intro to Genetic Pathology 1 Deck (16)
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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


Why understand the genetic basis of disease? A few reasons?

Choosing the best genetic test for the situation
Counselling for predictive testing (carrier, presymptomatic, prenatal, postnatal)
Potential for therapeutic intervention
To apply genotype to phenotype correlation
Understand the significance of genetic test results

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