ABCMdb

PMID: 9216450

Braun A, Little DP, Koster H
Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry.
Clin Chem. 1997 Jul;43(7):1151-8., [PubMed]

Sentences

No. Mutations Sentence Comment

68 ABCC7 p.Ile506Ser In the ddT and ddC reactions, the 7288.8-Da 24-mer primer is converted entirely to products consistent with the addition of 5 (8842.8 Da, Fig. 2a) and 14 (11 609.7 Da, Fig. 2b) bases, respectively; the result in Fig. 2a is consistent with not only wild-type, but also a genotype homo- or heterozygous for I506S and ⌬I507. Login to comment 69 ABCC7 p.Ile506Ser To resolve this ambiguity, these are readily distinguished on consideration of the ddC reaction, in which wild-type, I506S, and ⌬I507 alleles yield products of dramatically different mass (11 609 vs 9468 and 10 653 Da, respectively). Login to comment 73 ABCC7 p.Ile506Ser Further genotype assignment for patients homozygous for ⌬F508 (Fig. 2, e and f), compound heterozygote ⌬I507/⌬F508 (Fig. 2, g and h), and heterozygote for I506S (Fig. 2, i and k) are equally definitive, even though the two molecular species of the peak in Fig. 2h (⌬m ϭ 9 Da) are not resolved. Login to comment 74 ABCC7 p.Arg553* ABCC7 p.Gly542* PROBE was also used for simultaneous (biplex) detection of the CFTR gene exon 11 G542X and R553X mutations in two patients. Login to comment 96 ABCC7 p.Ile506Ser a and b, homozygous wild-type; c and d, heterozygote wild-type/⌬F508; e and f, homozygous ⌬F508; g and h, compound heterozygote ⌬I507/⌬F508; i and k, heterozygote wild-type/I506S. Login to comment 111 ABCC7 p.Gly542* a, heterozygous G542X; homozygous wild-type at codon 553. b, homozygous wild-type at codon 542; heterozygous R53X. Login to comment