Instrument Comparison for Heterozygote Scanning of Single and Double Heterozygotes: A Correction and Extension of Herrmann et al., Clin Chem 2006;52:494-503

We have discovered that the DNA sample used in our recent paper (1) as a control heterozygote at the sickle cell locus of β-globin (17A→T, also known as HBB c.20A→T by HUGO nomenclature) contained an additional variant. Subsequent sequencing revealed a double heterozygote, HBB c.[9C→T; 20A→T]. The HBB c. 9C→T is a silent variant for the 3rd amino acid, histidine. In view of this additional sequence variation, we reevaluated the heteroduplex scanning capabilities of the instruments, as reported in the original Fig. 3, to ascertain their ability to distinguish melting curves of heteroduplexes caused by single and double heterozygotes from melting curves of homoduplexes. The c. 9C→T is a …