Pitfalls in molecular diagnosis in a family with severe factor VII (FVII) deficiency-misdiagnosis by direct sequence analysis using a PCR product
Articolo
Data di Pubblicazione:
2003
Citazione:
Pitfalls in molecular diagnosis in a family with severe factor VII (FVII) deficiency-misdiagnosis by direct sequence analysis using a PCR product / I. Garagiola, R. Palla, F. Peyvandi. - In: PRENATAL DIAGNOSIS. - ISSN 0197-3851. - 23:9(2003 Sep), pp. 731-734.
Abstract:
Molecular diagnostic tests are becoming a routine analysis in many laboratories. These modern analyses are
widely used in clinical medicine, forensic, genetic and prenatal diagnosis and also in preimplantation genetic
diagnosis. The accuracy of analysis is highly dependent on the success achieved in minimising genotyping
errors. The pitfalls in molecular diagnostic tests can be due to a simple technique such as the polymerase chain
reaction (PCR) used universally. This technique is routinely used for its apparent accuracy, but it is also a
well-known source of errors. We report an error introduced during PCR reaction that leads to a wrong sequence
result and consequently to a ‘false’ molecular result in a next prenatal diagnosis in a family with severe factor
VII (FVII) deficiency. This error was verified using an unsuitable primer design in a rich repetitive sequence
of the FVII gene that leads to a false annealing and then to a wrong molecular diagnosis. It is essential to link
closely molecular data with clinical and phenotype analysis in order to avoid false-negative or false-positive
results, which is of great importance to diagnosis and molecular prevention
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Factor VII; Misdiagnosis; PCR error
Elenco autori:
I. Garagiola, R. Palla, F. Peyvandi
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