BGM1004/L23 Congenital Abnormalities Flashcards
Give 3 genetic factors influencing congenital abnormality.
Chromosomal defects
Syndromes
Single genes
Multi-gene interactions
Give 4 environmental factors influencing congenital abnormality.
Radiation
Maternal diabetes
Fever
Prescription drugs
Recreational drugs
Pollutants
Dietary deficiencies/excesses
What is achieved by studying congenital abnormality? (4)
Identify cause
Predict likelihood
Understand why factors lead to malformation
Prevention strategies
Give 3 key methodologies for anatomy.
Gross morphology - dissection
Histology
Embryos/tissues dehydrated
Embedded in paraffin wax
Thin slices cut
Different tissues/cell types visualised
Give 2 common types of methodology for physical manipulation.
Surgical
Chemical
Give 3 methodologies for the physical manipulation approach.
Removal of part of embryo
Replacing part of embryo
Using a drug to interfere with developmental process
Anatomical analysis
Give 3 techniques in the genetic approach.
Visualisation of genes
Transcriptomic sequencing
Measurement of levels of gene
Disruption of gene function
Ectopic gene expression
What information is given by gene expression analysis? (2)
Spatial and temporal information
Link genes to specific cell types
Give 2 methods for analysing gene expression.
In situ hybridisation
Immunohistochemistry
Linkage of gene regulatory elements to a reporter gene - transgenesis
What is single cell RNASeq?
Embryos taken at a single stage of development
Cell types isolated
Images of cell type dispersion given
What is the effect of gene knockout?
Effects on the embryo can be analysed
What method allows faster, more efficient creation of knockouts?
CRISPR-Cas9
Give 2 examples of genetic manipulations possible using CRISPR.
Single amino acid substitution
Statio-temporal knockout
What is gastrulation?
Process by which 3 germ layers are formed
When do specialised cell types occur in embryos?
During gastrulation
