Screen of 55 Slovenian haemophilia A patients: Identification of 2 novel mutations (S-1R and IVS23+1G→A) and discussion of mutation spectrum

• Published in: Human mutation Vol. 13; no. 5; p. 413
• Main Authors: Strmecki, Lana, Benedik-Dolnicar, Majda, Vouk, Katja, Komel, Radovan
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 1999; Hindawi Limited
• Subjects: Biochemistry; Enzymes; F8C; Factor VIII; Genetic testing; haemophilia A; Hemophilia; Molecular biology; Mutation; Patients; Polymerase chain reaction; Slovenia
• ISSN: 1059-7794; 1098-1004
• DOI: 10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU15>3.0.CO;2-E

Using polymerase chain reaction, single‐stranded conformational polymorphism (SSCP), TaqI restriction analysis and direct sequencing, exons 1, 7, 8, 9, 12, 13, 14, 18, 22, 23, 24, and 26 of the factor VIII gene were screened for point mutations in 55 Slovenian haemophilia A patients. In eighteen patients eleven different mutations were found; one (in six patients) in exon 26, one (in two patients) in exon 24, two in exon 23, one in intron 23, one in exon 18, one in exon 12, one in exon 8, two (1 + 1 in two patients) in exon 7 and one in exon 1. Of the mutations detected one has recently been reported by us (Q602X), and two are novel; S‐1R in exon 1 and IVS23+1G→A in intron 23. Hum Mutat 13:413–413, 1999. © 1999 Wiley‐Liss, Inc.