Topic 2 Flashcards
in genetic screening, why do carriers sometimes show a false positive
the recessive allele may be detected
what does implantation diagnosis consist of
embryos are created through IVF are tested to see if they carry faulty allele. Only the healthy embryos will be implanted
however the process is expensive and unreliable
define allele
a version of a gene
define a recessive allele
an allee which isn’t expressed when a dominant allele is present
define dominant allele
an allele is always expressed
define incomplete dominance
neither allele is dominant over the other and the resultant phenotype is a mix
what symptoms can cystic fibrosis present in gas exchange
mucus can block bronchioles which leads to less O2 to the alveoli so smaller concentration gradients
thin layer of mucus can make it difficult for O2 and CO2 to diffuse
what symptoms can cystic fibrosis present in reproduction
in men - sperm duct blocked with mucus so sperm can’t leave the testes
in women - mucus blocks the cervix so sperm cannot reach the egg
what symptoms can CF present in digestion
blocks the pancreatic duct so digestive enzymes cannot reach the digestive system so food isn’t properly digestive and nutrients aren’t absorbed so there is difficulty gaining weight
enzymes trapped in the pancreas cause fibrosed cysts and damage insulin producing cells which can also lead to diabetes
what does amniocentesis consist of
a syringe with a needle is inserted into the amniotic sac and fluid is extracted and foetal cells are then separated. This is cultured for 2-3 weeks
DNA is karyotyped, biochemical tests are also carried out on both the fluid and cells
this is when the foetus is 14-16 weeks
what does chorionic villus sampling consist of
a syringe is inserted in the vagina to take a sample of embryonic tissue from the placenta (the chorionic villus).
DNA is karyotyped when the fetus is 8-10 weeks old
why do people with CF have sticky mucus
the CFTR channel protein is non-functional therefore the Na+ channel (ENac) is always open so Na+ ions move into the cell and to the tissue fluid on the basal membrane
this causes the Cl- to move down the concentration gradient, water goes out from the mucus and into the cell and tissue fluid
what are the factors that one must consider in relation to prenatal screening
risk of miscarriage, potential abortion, religious beliefs of right to life, cost of healthcare, risks/consequences of false positives/negatives
what is meant by monohybrid inheritance
inheritance of 1 characteristic
when can mutations occur
DNA replication, transcription and translation
how do bodies decrease the viscosity of mucus on the apical membrane
Cl- is pumped into the cell across basal membrane
Cl- diffuses through open CFTR channels to outside apical membrane
Na+ diffuses down electrical gradient in mucus
Elevated salt concentration in the mucus draws water out of the cell and into the mucus via osmosis
what did Meselon and Stahl’s experiment consist of
- E coli bacteria cultured in 15-N containing medium
- transferred into a 14-N containing medium
- DNA extracted after each generation and centrifuged into BaCl solution
the heavier the DNA was, the deeper it sank in the test tube