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Describe the application of molecular testing to newborn screening for cystic fibrosis (CF)

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Biology

Describe the application of molecular testing to newbornscreening for cystic fibrosis (CF)

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CF is a relatively common autosomal recessive and frequently lethal condition caused by mutations in the CF transmembrane conductance regulator gene CFTR CFTR consists of 27 exons spanning approximately 250 kb on 7q3121 CFTR is a member of the ATPbinding cassette transporter family and encodes an anion transporter protein in the epithelium with five domains Two membranespanning domains form a chloride channel pore that plays a role in chlorine and bicarbonate transport and have secondary effects on sodium transport CFTR protein dysfunction leads to increased salt concentration in sweat and thickened secretions in various organ systems Numerous    See Answer
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