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Inverse shifting PCR based prenatal diagnosis of hemophilia‐causative inversions involving int22h and int1h hotspots from chorionic villus samples

2009; Wiley; Volume: 29; Issue: 12 Linguagem: Inglês

10.1002/pd.2393

1097-0223

Claudia Pamela Radic, Liliana Carmen Rossetti, Johanna Romina Zuccoli, Miguel Martín Abelleyro, Irene Larripa, Carlos Daniel De Brasi,

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Prenatal DiagnosisVolume 29, Issue 12 p. 1183-1185 Research Letter Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples Claudia P. Radic, Corresponding Author Claudia P. Radic [email protected] Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, Argentina C. P. R. and L. C. R. have equally contributed to this work and must be considered as first authors.Sección Genética Molecular de la Hemofilia, Departamento de Genética, Instituto de Investigaciones Hematológicas Mariano R. Castex, Academia Nacional de Medicina, Pacheco de Melo 3081, 1425 - Buenos Aires, Argentina.Search for more papers by this authorLiliana C. Rossetti, Liliana C. Rossetti Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, Argentina C. P. R. and L. C. R. have equally contributed to this work and must be considered as first authors.Search for more papers by this authorJohanna R. Zuccoli, Johanna R. Zuccoli Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, ArgentinaSearch for more papers by this authorMartín M. Abelleyro, Martín M. Abelleyro Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, ArgentinaSearch for more papers by this authorIrene B. Larripa, Irene B. Larripa Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, ArgentinaSearch for more papers by this authorCarlos D. De Brasi, Carlos D. De Brasi Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, ArgentinaSearch for more papers by this author Claudia P. Radic, Corresponding Author Claudia P. Radic [email protected] Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, Argentina C. P. R. and L. C. R. have equally contributed to this work and must be considered as first authors.Sección Genética Molecular de la Hemofilia, Departamento de Genética, Instituto de Investigaciones Hematológicas Mariano R. Castex, Academia Nacional de Medicina, Pacheco de Melo 3081, 1425 - Buenos Aires, Argentina.Search for more papers by this authorLiliana C. Rossetti, Liliana C. Rossetti Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, Argentina C. P. R. and L. C. R. have equally contributed to this work and must be considered as first authors.Search for more papers by this authorJohanna R. Zuccoli, Johanna R. Zuccoli Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, ArgentinaSearch for more papers by this authorMartín M. Abelleyro, Martín M. Abelleyro Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, ArgentinaSearch for more papers by this authorIrene B. Larripa, Irene B. Larripa Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, ArgentinaSearch for more papers by this authorCarlos D. De Brasi, Carlos D. De Brasi Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina, Buenos Aires, ArgentinaSearch for more papers by this author First published: 19 October 2009 https://doi.org/10.1002/pd.2393Citations: 6 AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES Bagnall RD, Waseem N, Green PM, Giannelli F. 2002. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe Hemophilia A. Blood 99: 168–174. Belvini D, Salviato R, Are A, Radossi P, Tagariello G. 2001. Rapid prenatal diagnosis of haemophilia. Haemophilia 7: 603–604. Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. 1993. Inversions disrupting the factor VIII gene are common cause of severe Hemophilia A. Nature Genet 5: 236–241. Liang Y, Yan M, Xiao B, Liu J. 2008. Analysis of intron 1 factor VIII gene inversion for direct diagnosis in patients with severe haemophilia A in China. Prenat Diagn 28: 160–161. Liu Q, Nozari G, Sommer SS. 1998. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot mutation in haemophilia A. Blood 92: 1458–1459. Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. 1993. Characteristic mRNA abnormality found in half the patients with severe Haemophilia A is due to large inversions. Hum Molec Genet 2: 1773–1778. Rossetti LC, Radic CP, Larripa IB, De Brasi CD. 2008. Developing a new generation of tests for genotyping hemophilia causative rearrangements involving int22h and int1h hotspots in the factor VIII gene. J Thromb Haemost 6: 830–836. Salviato R, Belvini D, Zanotto D, et al. 2007. Prenatal Diagnosis of haemophilia A by using intron 1 inversion detection. Haemophilia 13: 772–774. Sambrook J, Fritsch EF, Maniatis T. 1989. Molecular Clonning. A Laboratory Manual ( 2nd edn). Cold Spring Harbor Laboratory Press: New York. Citing Literature Volume29, Issue12December 2009Pages 1183-1185 ReferencesRelatedInformation