A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A.
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Arginine↗
Biomedical subjects
K Nafa
Publications and source records attributed to K Nafa.
Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria.
The frequency of alleles for intragenic (intron 17 and intron 25) and extragenic (DXS15 and DXS52) F8C RFLPs was investigated in the Algerian population. Altogether 287 X chromosomes (97 males and 95 females) were studied. The allele frequencies found with the two intragenic F8C RFLPs were not substantially different from those reported in a Mediterranean population. At the highly polymorphic extragenic DXS52 locus the distribution in Algeria differed from that found in France. A new allele (14 kb), called 1 DZ, was found in 3.1% of the chromosomes. Fifty-one families with hemophilia A were studied with the same probes (374 subjects). Of the females, 94% were informative for at least one intra- or extragenic RFLP. Two recombinations were found between DXS52 and F8C, of which one occurred between the DXS15, DXS52 block and F8C, indicating that the two anonymous loci are on the same side of the F8C gene. Only two obvious gene deletions were observed in 73 unrelated hemophiliacs: one encompassed exons 14-22 (about 4.3 kb of cDNA and 36 kb of genomic DNA); the other removed the last exon (exon 26, representing 2 kb of cDNA).
Algeria↗
A new TaqI allele at DXS52 frequent in Algeria.
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Algeria↗
Factor V Leiden mutation investigated by amplification created restriction enzyme site (ACRES) in PNH patients with and without thrombosis.
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired chronic hemolytic anemia characterized by intravascular hemolysis, often associated with neutropenia and thrombocytopenia. Venous thrombosis, including the Budd-Chiari syndrome, is one of the major complications of PNH, but not all PNH patients develop thrombosis. The basis for the high risk of thrombosis in PNH is not known. Recent reports have shown that Factor V Leiden mutation is a common cause of increased tendency to develop thrombosis. Fifty-six PNH patients were tested for Factor V Leiden mutation using Amplification Created Restriction Enzyme Site methods. PNH patients do not show an increased frequency of Factor V Leiden mutations.
Factor V↗