Genetic Disorder Biology Flashcards
What is Amorph?
Complete loss of f(x)
What is Hypomorph?
Partial loss of f(x)
What is Hypermorph?
Increase in normal f(x)
What is Neomorph?
New f(x)
What is Anti-morph?
Dominant-negative (inverse agonist)
Which genetic disorders can you treat by transplants, genome editing and/or cell therapy?
All kinds of mutations
Which genetic disorders can you treat by gene addition?
Loss of function (A/hypomorph)
Which genetic disorders can you treat by gene inhibition?
Gain in function (Hyper/neo/anti-morph)
Which genetic disorders can you treat by increasing native gene expression?
Hypomorph
Which genetic disorders can you treat by increasing expression of an alternative gene?
Loss of function (A/hypomorph)
What is an example of a hypomorph mutation resulting in haploinsufficiency?
Familial Hypercholesterolemia
What is an example of a neomorph mutation disorder?
Achondroplasia
What is an example of an anti-morph mutation disorder?
Osteogenesis Imperfecta
What is the difference between incomplete penetrance and variable expression?
Incomplete penetrance is discrete (+/-)
Variable expression is measured continuously (varying degrees)
What is X-inactivation and when does it occur?
It is the lyonisation of 1 X chromosome in females to compensate for extra alleles/genes on extra X chromosome
occurs soon after fertilisation/conception
What is genetic anticipation and when does it occur?
When the no. mutations (trinucleotide repeats) ↑ in successive generations
Occurs somatically
What is genomic imprinting and when does it occur?
It is the epigenetic modification of 1 gene copy (dependent of parent of origin)
Occurs during gametogenesis
What are the 4 types of genetics tests?
1) Chromosome/cytogenetic
- Karyotype
- FISH
- Chromosomal Microarray
2) DNA/molecular
- Multi-gene panels
- Whole Exome/Genome Sequencing
- Repeat analysis
3) RNA
- FISH
- transcriptome PCR/analysis
4) Protein/product/biochemical
- directly measure product
- indirectly measure f(x)
What is the mechanism/inheritance pattern when 2 patients present with 2 different syndromes but have the same genetic mutation?
Genomic imprinting
(NOT variable exp)
