which genetic factor is most commonly associated with an increased risk of developing asthma? A. Alpha-1 antitrypsin deficiency B. Mutation in the CFTR gene C. Polymorphisms in the IL-13 gene D. Mutation in the surfactant protein B gene
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Which of the following genetic polymorphisms is associated with a predisposition to asthma? (Select all that apply.) A. Promoter variants of IL-5 B. Structural variant of IgG receptor C. HLA class II allotypes D. β2-adrenergic receptor variant E. ACOX5 (5-lipoxygenase)
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A child presents with recurrent bacterial infections. Of the genetic defects described below, what is the most likely cause of her disease? a) A mutation in C3 that increases its rate of spontaneous cleavage into C3b and C3a. b) A mutation in an endosomal TLR that causes constitutive homodimerization. c) A mutation in the C3 gene that renders the C3 protein nonfunctional. d) A mutation in an endosomal TLR that prevents its homodimerization.
A 4 -year old toddler with cystic fibrosis (CF) is seen by his physician for an upper respiratory infection. Prior genetic testing has shown that there has been a deletion of three base pairs in exon 10 of the CFTRgene that affects codons 507 and 508 . The nucleotide sequence in this region for normal and mutant alleles is shown below (Xdenotes the missing nucleotide): What effect will this mutation have on the amino acid sequence of the protein encoded by theCFTRgene? A. Deletion of a phenylalanine residue with no change in the C-terminus sequence B. Deletion of a leucine residue with no change in the $C$ - terminus sequence C. Deletion of a phenylalanine residue with a change in the $C$ - terminus sequence D. Deletion of a leucine residue with a change in the $C$ - terminus sequence
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