Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria
Nafa, K. ; Meriane, F. ; Reghis, A. ; Benabadji, M. ; Demenais, F. ; Guilloud-Bataille, M. ; Sultan, Y. ; Kaplan, J. C. ; Delpech, M.
Springer
Published 1990
Springer
Published 1990
| ISSN: |
1432-1203
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|---|---|
| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Biology
Medicine
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| Notes: |
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).
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798295622315409409 |
|---|---|
| autor | Nafa, K. Meriane, F. Reghis, A. Benabadji, M. Demenais, F. Guilloud-Bataille, M. Sultan, Y. Kaplan, J. C. Delpech, M. |
| autorsonst | Nafa, K. Meriane, F. Reghis, A. Benabadji, M. Demenais, F. Guilloud-Bataille, M. Sultan, Y. Kaplan, J. C. Delpech, M. |
| book_url | http://dx.doi.org/10.1007/BF00195808 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM205625959 |
| issn | 1432-1203 |
| journal_name | Human genetics 〈Berlin〉 |
| materialart | 1 |
| notes | 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). |
| package_name | Springer |
| publikationsjahr_anzeige | 1990 |
| publikationsjahr_facette | 1990 |
| publikationsjahr_intervall | 8009:1990-1994 |
| publikationsjahr_sort | 1990 |
| publisher | Springer |
| reference | 84 (1990), S. 401-405 |
| search_space | articles |
| shingle_author_1 | Nafa, K. Meriane, F. Reghis, A. Benabadji, M. Demenais, F. Guilloud-Bataille, M. Sultan, Y. Kaplan, J. C. Delpech, M. |
| shingle_author_2 | Nafa, K. Meriane, F. Reghis, A. Benabadji, M. Demenais, F. Guilloud-Bataille, M. Sultan, Y. Kaplan, J. C. Delpech, M. |
| shingle_author_3 | Nafa, K. Meriane, F. Reghis, A. Benabadji, M. Demenais, F. Guilloud-Bataille, M. Sultan, Y. Kaplan, J. C. Delpech, M. |
| shingle_author_4 | Nafa, K. Meriane, F. Reghis, A. Benabadji, M. Demenais, F. Guilloud-Bataille, M. Sultan, Y. Kaplan, J. C. Delpech, M. |
| shingle_catch_all_1 | Nafa, K. Meriane, F. Reghis, A. Benabadji, M. Demenais, F. Guilloud-Bataille, M. Sultan, Y. Kaplan, J. C. Delpech, M. Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria 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). 1432-1203 14321203 Springer |
| shingle_catch_all_2 | Nafa, K. Meriane, F. Reghis, A. Benabadji, M. Demenais, F. Guilloud-Bataille, M. Sultan, Y. Kaplan, J. C. Delpech, M. Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria 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). 1432-1203 14321203 Springer |
| shingle_catch_all_3 | Nafa, K. Meriane, F. Reghis, A. Benabadji, M. Demenais, F. Guilloud-Bataille, M. Sultan, Y. Kaplan, J. C. Delpech, M. Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria 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). 1432-1203 14321203 Springer |
| shingle_catch_all_4 | Nafa, K. Meriane, F. Reghis, A. Benabadji, M. Demenais, F. Guilloud-Bataille, M. Sultan, Y. Kaplan, J. C. Delpech, M. Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria 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). 1432-1203 14321203 Springer |
| shingle_title_1 | Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria |
| shingle_title_2 | Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria |
| shingle_title_3 | Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria |
| shingle_title_4 | Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:39:08.131Z |
| titel | Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria |
| titel_suche | Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria |
| topic | W WW-YZ |
| uid | nat_lic_papers_NLM205625959 |