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What causes cystic fibrosis
gene mutation - causing a non functioning CFTR protein channel - chloride ions can’t move out of the epithelial cells - accumulation of sodium and chloride ions in the cells causing water to move out of mucus by osmosis
what does cystic fibrosis cause
the production of thicker/stickier mucus
what’s the role of the CFTR protein
chloride ions leave cells ( through CFTR protein channel) - sodium ions leave cells ( following the chloride ions) - increasing solute concentration in mucus - water moves out of the cells by osmosis into the mucus
advantages and disadvantages of NIPD ( non invasive prenatal diagnosis)
non invasive, less traumatic procedure and no increased risk of a miscarriage but its only available for chromosome disorders such as Down’s syndrome
what is incomplete dominance
an allele whose characteristic is not completely expressed over its paired recessive allele. the result is a phenotype that is a combination of the two alleles.