caa a22 4500 46798395X CHVBK 20180323112526.0 cr unu---uuuuu 170328e19900401xx s 000 0 eng 10.1007/BF00195808 doi (NATIONALLICENCE)springer-10.1007/BF00195808 Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria [Elektronische Daten] [K. Nafa, F. Meriane, A. Reghis, M. Benabadji, F. Demenais, M. Guilloud-Bataille, Y. Sultan, J. Kaplan, M. Delpech] Summary: 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 (14kb), 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 36kb of genomic DNA); the other removed the last exon (exon 26, representing 2 kb of cDNA). Springer-Verlag, 1990 Nafa K. Centre de Transfusion Sanguine, CHU Mustapha, Alger, Algeria aut Meriane F. Centre de Transfusion Sanguine, CHU Mustapha, Alger, Algeria aut Reghis A. Centre de Transfusion Sanguine, CHU Mustapha, Alger, Algeria aut Benabadji M. Centre de Transfusion Sanguine, CHU Mustapha, Alger, Algeria aut Demenais F. INSERM U.155, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut Guilloud-Bataille M. INSERM U.155, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut Sultan Y. Centre de Traitement des Hémophiles INSERM U.129, CHU Cochin, F-75014, Paris, France aut Kaplan J. Institut de Pathologie Moléculaire, CNRS 1147, CHU Cochin, F-75014, Paris, France aut Delpech M. Institut de Pathologie Moléculaire, CNRS 1147, CHU Cochin, F-75014, Paris, France aut Human Genetics Springer-Verlag 84/5(1990-04-01), 401-405 0340-6717 84:5<401 1990 84 439 https://doi.org/10.1007/BF00195808 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00195808 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Nafa K. Centre de Transfusion Sanguine, CHU Mustapha, Alger, Algeria aut NATIONALLICENCE 700 1- Meriane F. Centre de Transfusion Sanguine, CHU Mustapha, Alger, Algeria aut NATIONALLICENCE 700 1- Reghis A. Centre de Transfusion Sanguine, CHU Mustapha, Alger, Algeria aut NATIONALLICENCE 700 1- Benabadji M. Centre de Transfusion Sanguine, CHU Mustapha, Alger, Algeria aut NATIONALLICENCE 700 1- Demenais F. INSERM U.155, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut NATIONALLICENCE 700 1- Guilloud-Bataille M. INSERM U.155, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut NATIONALLICENCE 700 1- Sultan Y. Centre de Traitement des Hémophiles INSERM U.129, CHU Cochin, F-75014, Paris, France aut NATIONALLICENCE 700 1- Kaplan J. Institut de Pathologie Moléculaire, CNRS 1147, CHU Cochin, F-75014, Paris, France aut NATIONALLICENCE 700 1- Delpech M. Institut de Pathologie Moléculaire, CNRS 1147, CHU Cochin, F-75014, Paris, France aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/5(1990-04-01), 401-405 0340-6717 84:5<401 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer