Lecture 4 - Cystic Fibrosis Flashcards
Cystic Fibrosis Discovery
Discovered by Dorothy H. Andersen 1938
Genetic Linkage Defintion
Tendency for 2+ genes/loci located in the same chromosome to be inherited together
Closer the loci, stronger the linkage
Goal of Genetic Linkage Analysis
Place genes and genetic markers along chromosomes, order them, assign genetic map
Use of creating Candidate Region
To understand what DNA sequences cause a disease
Chromosome Jumping and Walking Definition
Method of Gene Identification and Gene Mapping
Chromosome Jump Definition
Enables two ends of a DNA Fragment to be to be cloned without the middle section
Chromosome Walk Definition
Enables a gene to be mapped from its closest known marker
Transmembrane Domain Definition/Function
Series of alpha helices that sit through the membrane
Transport ions through the membrane
Nucleotide Binding Domains Definition/Function
Located adjacent to TMD’s
Bind to ATP to provide energy for ion movement through the channel
Regulator Domain Definition/Function
Regulates ion movement
Affected by Protein Kinase A/C
Considerations for Sweat Test Results
Clinical Presentation
Family History
Age
Mucolytic Therapy Definition
Recombinant DNA Enzyme that breaks down infectious agent DNA and mucus
Bronchodilator Definition
Medication used to relax muscles in the airways/lungs
FEV1 Definition
Forced Expiratory Volume
Volume of air a person can force out of their lungs in 1 second
3 steps of CFTR Genetic Analysis
Patients with IRT are screened for common CFTR pathogenic variants
NHS Genomics screen for variants using Real-Time genotyping PCR
If one variant is found, further screening using ElucigeneTM methodolgy
