Characterization of sequence breakpoints in two haemophiliac patients with large FVIII gene deletions

Fernández-López, Olga; García‐Lozano, José‐Raúl; Núñez-Vázquez, R.; Pérez-Garrido, Rosario; Núñez‐Roldán, Antonio

doi:10.1111/j.1365-2516.2007.01509.x

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Multiplex Pcr1

Dosage Analysis For Large Deletions and Duplications1

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“…In two patients, when PCR was performed, some exons had not been amplified to be directly sequenced, suggesting a deletion affecting these exons. To determine the breakpoint regions, multiplex PCR was done for the associated exons, as described by Fernandez-Lopez et al 19 T A B L E 1 Clinical and demographic data of the patients…”

Section: Multiplex Pcrmentioning

confidence: 99%

Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations

Sola

Morovvati

Moghadam

et al. 2020

Clinical Case Reports

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Section: Multiplex Pcrmentioning

confidence: 99%

Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations

Sola

Morovvati

Moghadam

et al. 2020

Clinical Case Reports

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“…Presence of this deletion-specific product can then be used to identify female carriers. 54 The relative quantity of DNA in amplicons across F8 can also be used to determine carrier status (dosage analysis). For a system applicable to all deletion families, a complete set of F8 amplicons for analysis by DHPLC has been designed.…”

Section: Dosage Analysis For Large Deletions and Duplicationsmentioning

confidence: 99%

Molecular Genetic Testing of Hemophilia A

Goodeve

2008

Semin Thromb Hemost

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Genetic testing in hemophilia A continues to diversify. This article describes recent advances in several aspects of genetic analysis and its interpretation and reporting. The intron 1 and 22 inversions responsible for 50% of severe hemophilia A cases can be sought using long and inverse polymerase chain reaction (PCR) techniques. Point mutations are analyzed in remaining patients by PCR amplification of the F8 protein-coding region followed by either mutation screening to identify the mutated amplicon and subsequent DNA sequencing or by directly sequencing amplified DNA. Many technique modifications and sequence analysis software packages are available to reduce time and effort required to identify a mutation. Dosage analysis and gap PCR have been described to identify carriers of large F8 deletions. Noninvasive prenatal fetal sex determination and preimplantation genetic diagnosis extend the reproductive options available to hemophilia carriers. Guidelines on undertaking and reporting the testing plus external quality assessment are now available to help ensure that genetic analysis yields accurate and well-interpreted results.

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Characterization of sequence breakpoints in two haemophiliac patients with large FVIII gene deletions

Cited by 2 publications

References 3 publications

Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations

Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations

Molecular Genetic Testing of Hemophilia A

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