ABCMdb

PMID: 18676584

Zhou L, Errigo RJ, Lu H, Poritz MA, Seipp MT, Wittwer CT
Snapback primer genotyping with saturating DNA dye and melting analysis.
Clin Chem. 2008 Oct;54(10):1648-56. Epub 2008 Aug 1., [PubMed]

Sentences

No. Mutations Sentence Comment

102 ABCC7 p.Ile506Val ABCC7 p.Ile506Val All heterozygotes resolve into 2 melting peaks except for the I506V heterozygote; however, even the I506V heterozygote is clearly distinguished from other genotypes by the shape of its melting curve after high-resolution melting analysis. Login to comment 193 ABCC7 p.Phe508Cys ABCC7 p.Ile506Val Snapback 1 covered the F508del, I507del, F508C, and I506V variants with melting transitions between 46 and 60 °C. Login to comment 194 ABCC7 p.Gln493* The longer snapback 2 covered the Q493X variant and melted between 66 and 72 °C. Login to comment 196 ABCC7 p.Gln493* ABCC7 p.Phe508Cys ABCC7 p.Ile506Val Samples included wild type (circles), compound F508del/Q493X heterozygote (connected small diamonds), I506V heterozygote (small diamonds), F508C heterozygote (small squares), I507del heterozygote (large squares), F508del heterozygote (connected large diamonds), and F508del homozygote (connected squares). Login to comment