Single-nucleotide polymorphisms may cause erroneous results in primer-introduced restriction enzyme analyses:a case of molecular misdiagnosis of homozygous vs heterozygous familial hypercholesterolemia
| Autor: | J Saltevo, Alpo Vuorio, Lars Paulin, Kimmo Kontula |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Base Pair Mismatch
Restriction Mapping Loss of Heterozygosity Single-nucleotide polymorphism Biology Polymerase Chain Reaction Polymorphism Single Nucleotide Hyperlipoproteinemia Type II Loss of heterozygosity 03 medical and health sciences Restriction map Humans Diagnostic Errors Allele Molecular Biology DNA Primers 030304 developmental biology Genetics 0303 health sciences Genetic Carrier Screening Point mutation Homozygote 030305 genetics & heredity Reproducibility of Results Cell Biology Molecular biology 3. Good health Restriction enzyme Restriction fragment length polymorphism Primer (molecular biology) Polymorphism Restriction Fragment Length |
| Zdroj: | Molecular and Cellular Probes. 13:421-424 |
| ISSN: | 0890-8508 |
| Popis: | PCR amplification followed by a primer introduced restriction analysis PCR (PIRA-PCR) is a widely used method to detect point mutations. Usually the artificial RFLP is created by siting one nucleotide mismatch near the 3; end of the primer. This does not alter the hybrization of the primer to the target DNA sequence. Unfortunately, unexpected single nucleotide polymorphisms (SNPs) may lead to additional mismatches and result in no amplification of the allele having unexpected SNP. We describe a warning example in which heterozygous familial hypercholesterolemia patient had an unexpected SNP and this led to his misdiagnosis. |
| Databáze: | OpenAIRE |
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