In the course of analysing mutation in the factor IX gene from 200 haemophilia B patients in Sweden and the UK, we have identified one patient with a prepeptide missense mutation. He has severe, antigen negative haemophilia, and complete analysis of his coding sequence reveals a single base transver
Identification of factor IX mutations in Iranian haemophilia B patients by SSCP and sequencing
β Scribed by Morteza Karimipoor; Sirous Zeinali; Nafiseh Nafissi; Edward G.D. Tuddenham; Manijeh Lak; Reza Safaee
- Book ID
- 116913502
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 109 KB
- Volume
- 120
- Category
- Article
- ISSN
- 0049-3848
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
In this study we have analyzed the factor IX gene from 84 hemophilia B patients of Spanish origin. It included single-strand conformation polymorphism (SSCP) analysis of all functional regions of the gene and further sequencing of all fragments showing abnormal migration. In 76 patients (90.4%), it
The search for mutations of the factor IX gene responsible for haemophilia B should nowadays be used routinely for the molecular diagnosis of this inherited disorder, i.e. carrier detection and prenatal diagnosis. A number of methodologies have been proposed, most of them being delicate or expensive
The molecular characterization of two haemophilia B defects, Calgary 1 and Calgary 2, was carried out using polymerase chain reaction (PCR) amplification and direct dideoxy sequencing. It had been previously shown that the Calgary 1 mutation affects the 5' TaqI restriction site of exon VIII, whereas