A One-Step Real-Time PCR Assay for Rapid Prenatal Diagnosis of Sickle Cell Disease and Detection of Maternal Contamination
作者:
Catherine Costa,
Serge Pissard,
Emmanuelle Girodon,
Danièle Huot,
Michel Goossens,
期刊:
Molecular Diagnosis
(ADIS Available online 2003)
卷期:
Volume 7,
issue 1
页码: 45-48
ISSN:1084-8592
年代: 2003
出版商: ADIS
数据来源: ADIS
摘要:
IntroductionMutations at the codon 6 of theβ-globingene (hemoglobin [Hb] S and HbC) can be routinely identified by various methods and prenatal diagnosis has been available to affected families for several years. However, the presence of maternal cells in fetal samples constitutes a serious potential source of prenatal misdiagnosis and most methods currently used to detect maternal contamination are based on the analysis of highly polymorphic loci. In addition, these methods are labor intensive and time consuming and risk carry-over contamination.MethodWe describe here a one-step method for mutation detection that uses fluorescent hybridization probes with melting curve analysis for both simultaneously prenatal diagnosis of sickle cell disease and potential maternal contamination.ResultsRetrospective and prospective prenatal diagnosis studies (conducted in 20 and 50 cases, respectively), using both the regular procedure and real-time PCR assay show perfect concordant results. We show in addition, that as little as 5% maternal contamination can be detected and that genotype determinations are unambiguous.
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