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Clinical Chemistry 50: 1269-1270, 2004; 10.1373/clinchem.2004.031609
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(Clinical Chemistry. 2004;50:1269-1270.)
© 2004 American Association for Clinical Chemistry, Inc.

Letters to the Editor

Quantitative Real-Time PCR Assay for Rapid Identification of Deletion Carriers in Hemophilia

Catherine Costa1,2,a, Jean-Marie Jouannic3, Nathalie Stieltjes4, Jean-Marc Costa5, Emmanuelle Girodon1,2 and Michel Goossens1,2

1 Laboratoire de, Génétique Moléculaire, Centre Hospitalier Universitaire, Henri Mondor AP-HP, Créteil, France, 2 INSERM U468, Créteil, France, 3 Service de Médecine Foetale, Institut de Puériculture de Paris, Paris, France, 4 Centre de Traitement des Hémophiles, Groupe Hospitalier Cochin, Saint Vincent de Paul, Paris, France, and 5 Centre de Diagnostic Prénatal, Hôpital Américain de Paris, Neuilly/Seine, France

aAddress correspondence to this author at: Service de Biochimie-Génétique, Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire Henri Mondor, 51, av. du Mal-de-Lattre-de-Tassigny, 94010 CRETEIL Cedex, France. Fax 33-1-49-812-842; e-mail costa@im3.inserm.fr.

The first 20% of the full text of this article appears below.


To the Editor:

Gene deletions are common events in various hereditary diseases, but conventional PCR often fails to detect such defects in heterozygous patients (1). This highlights the need for a suitable method, easily applicable in a diagnostic laboratory (2). Large deletions account for ~5% of cases of hemophilia, inherited as a recessive X-linked disease, making determination of carrier status difficult. It is of particular importance when a pregnant woman is carrying a male fetus. Prenatal testing that uses invasive methods of sample collection carries a risk of miscarriage or fetal injury, and is unnecessary if the woman is not a carrier. We designed a real-time quantitative PCR assay to establish heterozygous status for deletion carriers and to avoid such risky situations in a family in which a large deletion of the F9 gene was . . . [Full Text of this Article]




The following articles in journals at HighWire Press have cited this article:


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A. Vencesla, M. J. Barcelo, M. Baena, M. Quintana, M. Baiget, and E. F. Tizzano
Marker and real-time quantitative analyses to confirm hemophilia B carrier diagnosis of a complete deletion of the F9 gene
Haematologica, November 1, 2007; 92(11): 1583 - 1584.
[Abstract] [Full Text] [PDF]


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