Instrument comparison for heterozygote scanning of single and double heterozygotes: a correction and extension of Herrmann et al., Clin Chem 2006;52:494-503.
作者： Mark G Herrmann , Jacob D Durtschi , L Kathryn Bromley , Carl T Wittwer , Karl V Voelkerding
DOI: 10.1373/CLINCHEM.2006.081240
关键词: Locus (genetics) 、 Heteroduplex 、 Genetics 、 Molecular biology 、 Double heterozygote 、 Heterozygote advantage 、 Biology 、 Sequence variation
摘要: We have discovered that the DNA sample used in our recent paper (1) as a control heterozygote at sickle cell locus of β-globin (17A→T, also known HBB c.20A→T by HUGO nomenclature) contained an additional variant. Subsequent sequencing revealed double heterozygote, c.[9C→T; 20A→T]. The c. 9C→T is silent variant for 3rd amino acid, histidine. In view this sequence variation, we reevaluated heteroduplex scanning capabilities instruments, reported original Fig. 3, to ascertain their ability distinguish melting curves heteroduplexes caused single and heterozygotes from homoduplexes. …
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