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Identification of seven novel mutations of F8C by DHPLC

✍ Scribed by Sabrina Frusconi; Ilaria Passerini; Francesca Girolami; Maddalena Masieri; Silvia Linari; Giovanni Longo; Massimo Morfini; Francesca Torricelli

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 229 KB
Volume: 20
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9052

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✦ Synopsis

Hemophilia A is an X-linked recessive disorder resulting from deficiency of Factor VIII (F8C), an important protein in blood coagulation. A large number of disease producing mutations have been reported in the F8C gene. However, a comprehensive analysis of mutations is difficult to conduct due to the large gene size, its many scattered exons, and the high frequency of de novo mutations. In this study, we performed analysis using PCR, Conformation Sensitive Gel Electrophoresis (CSGE), Denaturing High Performance Liquid Chromatography (DHPLC) and direct sequencing. We found seven novel mutations causing severe, moderate and mild Hemophilia A: IVS14-1G>A, G458V, T1695S, L1758P, Q2311P, 1441delT, 1269-1271insA. At least four variants detected by DHPLC (IVS14-1G>A, Q2311P,_R698W and D1241Q) were not detectable by CSGE.

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