Unit 1: DNA technology and therapeutics Flashcards
what is a genetic disorder?
disease caused by an abnormality in an individuals DNA
what is cystic fibrosis?
genetic disease caused by a mutant form of the CFTR protein
what is the function of the CFTR protein?
controls the chloride-ion balance in the cells lining the lungs and the digestive system by channelling chloride ions out
how was CF originally diagnosed?
by measuring the salt content in sweat
what occurs if a person has cystic fibrosis?
deletion mutation - has one less amino acid, chloride ions are not channelled out of the cells so they become hypertonic
water drawn into cell by osmosis, mucus lining the lungs becomes sticky
cilia in trachea cannot move sticky mucus effectively
what does non-viable gametes mean?
they can’t form homologous pairs so they don’t give live offspring
in what chromosome is the gene for duchenne’s muscular dystrophy on?
x chromosome
why is DMD more common in males?
they only need to receive the affected allele from their mother. females require affected allele from both parents
what is the non mutant form of the dystrophin gene responsible for?
for synthesis of the body’s largest protein - dystrophin
what is duchenne’s muscular dystrophy
causes muscle deterioration during adolescence and is currently incurable
how can genetic disorders be detected?
screening through the use of single locus gene probes
what is gene therapy?
involved the replacement of a fault gene with a working copy of the affected gene.
if it is a recessive gene, don’t need to remove only need to add dominant gene
what are the difficulties of gene therapy?
finding an appropriate vector
- able to penetrate human membranes
