ABCMdb

PMID: 15502086

Farez-Vidal ME, Gomez-Llorente C, Blanco S, Morales P, Casals T, Gomez-Capilla JA
Multimutational analysis of eleven cystic fibrosis mutations common in the Mediterranean areas.
Clin Chem. 2004 Nov;50(11):2155-7., [PubMed]

Sentences

No. Mutations Sentence Comment

51 ABCC7 p.Leu206Trp ABCC7 p.Arg1066Cys ABCC7 p.Lys710* ABCC7 p.Arg1066Leu ABCC7 p.Gln890* ABCC7 p.Arg1066His ABCC7 p.Arg1066Ser ABCC7 p.Arg709* Two multiplex reactions were designed for the analysis of 11 mutations: multiplex 1 (M1) analyzed K710X, R1066C/R1066S, 2869 insG, and Q890X polymorphisms; and multiplex 2 (M2) analyzed L206W, 1609delCA, R1066L/R1066H, R709X, and 1811 ϩ 1.6Kb polymorphisms. Login to comment 72 ABCC7 p.Arg1066Cys ABCC7 p.Gln890* ABCC7 p.Gln890* Fig. 1A shows M1 multiplex analysis of a sample heterozygous for the Q890X mutation; the colored peaks correspond to the following wild-type alleles: 2869 insG (green), Q890X (black), K710X (green), and R1066C/S (black). Login to comment 73 ABCC7 p.Arg1066Leu ABCC7 p.Arg709* Fig. 1B shows M2 multiplex analysis of a sample heterozygous for the 1609delCA mutation; the colored peaks correspond to the following wild-type alleles: L206W (red), 1609delCA (black), R1066L/H (blue), R709X (black), and 1811 ϩ 1.6Kb (green). Login to comment 75 ABCC7 p.Arg1066Cys ABCC7 p.Arg709* [Results for individuals carrying the K710X (M1), R1066C/S (M1), 2869 insG (M1), L206W (M2), R1066 L/H (M2), R709X (M2), and 1811 ϩ 1.6 Kb (M2) mutations, respectively, are shown in Figs. Login to comment 83 ABCC7 p.Gln890* (A), multiplex analysis (M1) of an individual heterozygous for the Q890X mutation. Login to comment 84 ABCC7 p.Arg1066Cys ABCC7 p.Lys710* ABCC7 p.Gln890* Peaks in the M1 multiplex correspond to the following mutations: 2869 insG, Q890X, K710X, and R1066C/S. Login to comment 85 ABCC7 p.Arg1066Cys ABCC7 p.Lys710* ABCC7 p.Gln890* Peaks sizes for the wild-type (WT) positions studied (nt) were as follows: for 2869 insG, 30.73-30.91; for Q890X, 36.04-36.33; for K710X, 41.34-41.66; for R1066C/S, 46.21-46.37. Login to comment 87 ABCC7 p.Leu206Trp ABCC7 p.Arg1066Leu ABCC7 p.Arg709* Peaks in M2 multiplex correspond to the following mutations: L206W, 1609delCA, R1066L/H, R709X, and 1811 ϩ 1.6Kb. Login to comment 88 ABCC7 p.Leu206Trp ABCC7 p.Arg1066Leu ABCC7 p.Arg709* Peaks sizes for wild-type positions studied (nt) were as follows: for L206W, 28.78-29.10; for 1609delCA, 32.71-32.89; for R1066L/H, 35.77-36.16; for R709X, 41.89-42.16; and for 1811 ϩ 1.6Kb, 49.71-49.91. Login to comment