Heteroduplex formation: a potential source of genotyping error from PCR products.
The formation of heteroduplexes from polymerase chain reaction (PCR) products has recently become a diagnostic tool that is routinely used for the prenatal detection of small deletions or insertions in a number of disease-causing alleles. We present evidence illustrating that heterozygous PCR products can manifest 'invisible' heteroduplexes that can ultimately lead to genotyping errors. Justifications for these 'invisible' heteroduplexes and requisite parameters to optimize their detection are presented.
University of California, Davis Medical Center, Department of Pathology, Sacramento 95816.
S L
SL
Hatcher
Q T
QT
Lambert
R L
RL
Teplitz
J R
JR
Carlson
D000649:Amniocentesis; D001483:Base Sequence; D002872:Chromosome Deletion; D004247:DNA / Q000097:blood / Q000737:chemistry*; D003951:Diagnostic Errors; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D006580:Genetic Carrier Screening; D005838:Genotype; D005914:Globins / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009692:Nucleic Acid Heteroduplexes; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics
D009692:Nucleic Acid Heteroduplexes; D005914:Globins; D004247:DNA