1. Reverse-dot ASO analysis for various point mutations causing cystic fibrosis. For each mutation, the PCR product is hybridized to an ASO dot on the left for normal allele and on the right for the mutant allele. The positions for each ASO are indicated as follows: F and Δ for the ΔF508 mutation; G and X for the G542X mutation; G and D for the G551D mutation; R and X for the R553X mutation; N and K for the N1303K mutation; and 10 or 11 or 21 under control for the ASO to detect the amplification of exons of those numbers. Mutations are designated by single letter amino acid code (X = nonsense), with the normal amino acid followed by the position number followed by the substituted amino acid. Thus, G551D is substitution of aspartic acid (D) for glycine (G) at position 551. ΔF508 is deletion of phenylalanine at position 508. Letters at the right margin identify individuals of the following genotypes: A = no mutation; B = ΔF508/G542X compound heterozygote; C = ΔF508/R553X compound heterozygote; D = G542X heterozygote; E = G551D heterozygote; F = R553X heterozygote; and G = N1303K heterozygote. (Provided by H. Erlich, Roche Molecular Systems.)
Source: Genetics, Biochemistry, and Molecular Bases of Variant Human Phenotypes, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: October 13, 2017
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