ORIGINAL ARTICLESHaemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene
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Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: Founder effect or independent occurrence?
2015, Thrombosis ResearchCitation Excerpt :This was in order to facilitate the interpretation of results obtained by haplotype analysis. Flanking markers from 1.4 Mb centromeric to 0.6 Mb telomeric of the F8 locus were genotyped, including the four previously reported [6,8,12,16] extragenic and intronic microsatellites (3’ DXS15–DXSint22–DXSint13–DXS1108-5’) and ten SNPs, as displayed in Table 1. The PCR was conducted in a 25 μL containing 1x PCR Faststart buffer, 1U of Faststart Taq polymerase (Hoffmann-La Roche, Basel, Switzerland), 0.2 mM of each dNTP, and 10pmol of each primer.
Profile of genetic disorders prevalent in northeast region of Cairo, Egypt
2012, Egyptian Journal of Medical Human GeneticsCitation Excerpt :In 2000, Khalifa et al. [65] also reported the possibility to offer diagnosis in 68.4% of the studied families with the combined use of both intron 13 and intron 22 repeats. Intron 13 and 22 of factor VIII gene are multi allelic- dinucleotide tandem repeats used for indirect gene tracking [66,67]. Chromosomal disorders represented a significant class of genetic disorders in Egypt and constituted 11.77% and 0.51% in genetics and general pediatrics clinics, respectively (Table 4).
Four Decades of Carrier Detection and Prenatal Diagnosis in Hemophilia A: Historical Overview, State of the Art and Future Directions
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