Cell-free fetal DNA detection in maternal plasma using real-time PCR and cycling probe technology for prenatal screening beta-thalassaemia major / 南方医科大学学报
Journal of Southern Medical University
; (12): 1210-1213, 2008.
Article
em Zh
| WPRIM
| ID: wpr-270173
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze cell-free fetal DNA in maternal plasma for prenatal screening of beta-thalassaemia major.</p><p><b>METHODS</b>Six couples undergoing prenatal diagnosis of beta-thalassaemia (gestational age range 23-26 weeks) were enrolled in this study. The husbands were all carriers of the CD17 (A-->T) mutation, and the wives carried another beta-thalassaemia mutation. The allele-specific primers and two fluorescent cycling probes were synthesized for the detection of the CD17 (A-->T) mutation, using FAM and HEX fluorescence labeling, respectively. The cell-free fetal DNA in the maternal plasma was detected using real-time PCR, and the fetal genotype was confirmed by cord blood conventional prenatal diagnosis.</p><p><b>RESULTS</b>In the 6 pregnancies, FAM and HEX fluorescent signals were detected in 3 maternal plasma samples; in the other 3 samples, only FAM fluorescent signals were detected, suggesting the absence of paternally derived CD17 (A-->T) mutation.</p><p><b>CONCLUSION</b>Examination of cell-free fetal DNA in maternal plasma using real-time PCR and cycling probe technology can be effective means for prenatal screening of beta-thalassaemia major.</p>
Texto completo:
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Índice:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
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Sangue
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DNA
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Análise Mutacional de DNA
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Sondas de DNA
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Mutação Puntual
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Talassemia beta
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Reação em Cadeia da Polimerase Via Transcriptase Reversa
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Diagnóstico
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Doenças Fetais
Tipo de estudo:
Diagnostic_studies
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Screening_studies
Limite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Journal of Southern Medical University
Ano de publicação:
2008
Tipo de documento:
Article