Long distance PCR in detection of inversion mutations of F8C gene in hemophilia A patients

General Physiology and Biophysics

Volumn 22, Issue 2, 2003, Pages 243-253

  Poláková, Helena ^a   Zmetakova I ^b   Kadasi L ^a  

^a INSTITUTE OF MOLECULAR PHYSIOLOGY AND GENETICS   (Slovakia)

^b Physics and Informatics   (Slovakia)

Author keywords

DNA diagnosis; F8C; Hemophilia A; Inversion; Long distance; PCR

Indexed keywords

DNA;

ARTICLE; CLINICAL ARTICLE; CLINICAL PRACTICE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; DISEASE CARRIER; DISEASE SEVERITY; DNA FLANKING REGION; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENOTYPE; HEMIZYGOSITY; HEMOPHILIA A; HUMAN; INTERMETHOD COMPARISON; INTRON; MALE; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SEQUENCE HOMOLOGY; SOUTHERN BLOTTING;

DNA MUTATIONAL ANALYSIS; FACTOR VIII; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HEMOPHILIA A; HUMANS; INTRONS; INVERSION, CHROMOSOME; MALE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 0142186725     PISSN: 02315882     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Antonarakis S. E., Waber P. G., Kittur S. D., Patel A. S., Kazazian H. H. Jr., Mellis M. A., Counts R. B., Stamatoyannopoulos G., Bowie E. J., Fass D. N., Pittman D. D., Wozney J. M., Toole J. J. (1985): Hemophilia A. Detection of molecular defects and carriers by DNA analysis. New Engl. J. Med. 313, 842-848
2. Antonarakis S. E., Rossiter J. P., Young M., Horst J., Moerloose P., Sommer S. S., Ketterling R. P., Kazazian H. H., Negrier C., Vinciguerra C., Gitschier J., Goossens E., Girodon E., Ghanem N., Plassa F., Lavergne J. M., Vidaud M., Costa J. M., Laurian Y., Lin S. R., Shen M. C., Lillicrap D., Taylor S. A., Windsor S., Valleix S. V., Nafa K., Sultan Y., Delpech M., Vnencak-Jones J. A., Phillips J. A., Ljung R. C., Koumbarelis E., Gialeraki A., Mandalaki T., Jenkins P. V., Collins P. W., Pasi K. J., Goodeve A., Peake I., Preston F. E., Schwartz M., Scheibel E., Ingerslev J., Cooper D. N., Millar D. S., Kakkar V. V., Giannalli F., Naylor J. A., Tizzano E. F., Baiget M., Dommenech M., Altisent C., Tusell J., Beneyto M., Lorenzo J. I., Mazurier C., Peerlinck K., Matthijs G., Cassiman J. J., Vermylen J., Mori P. G., Acquila M., Caprino D., Inaba H. (1995): Factor VIII inversions in severe hemophilia A: results of an international consortium study. Blood 84, 2206-2212
3. Becker J., Schwaab R., Moller-Taube A., Schwaab U., Schmidt W., Brackman H. H., Grimm T., Olek K., Oldenburg J. (1996): Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type dependent sex ratio of mutation frequencies. Am. J. Human. Gen. 58, 657-670
4. Cheng S., Fockler C., Barnes W. M., Higuchi R. (1994): Effective amplification of long targets from cloned inserts and human genomic DNA. Proc. Natl. Acad. Sci. USA 91, 5695-5699
5. Gitschier J., Wood W. I., Goralka T. M., Wion K. L., Chen E. Y., Eaton D. H., Vehar G. A., Capon D. J., Lawn R. M. (1984): Characterization of human factor VIII gene. Nature 312, 326-330
6. Henegariu O., Heerema N. A., Dlouhy S. R., Vance G. H., Vogt P. H. (1997): Multiplex PCR: critical parameters and step-by-step protocol. BioTechniques 23, 504-511
7. HGMD (2003): http//uwcmml1s.uwcm.ac.uk/uwcmumg/search/119124.html
8. Higuchi M., Kazazian H. H., Kasch L., Warren T. C., McGinniss M. J., Philips J. A., Kasper C., Janco R., Antonarakis S. E. (1991): Molecular characterization of severe Hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proc. Natl. Acad. Sci. USA 88, 7405-7409
9. Kunkel L. M., Smith K. D., Boyer S. H., Borgaonkar D. S., Wachtel S. S., Miller O. J., Bregg W. R., Jones H. V., Rary J. M. (1977): Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc. Natl. Acad. Sci. USA 74, 1245-1249
10. Lakich D., Kazazian H. H., Antonarakis S. E., Gitschier J. (1993): Inversions disrupting the factor VIII gene are a common cause of severe hemophilia A. Nat. Genet. 5, 236-241
11. Levinson B., Kenwrick S., Lakich D., Hammonds G., Gitschier J. (1990): A transcribed gene in an intron of human factor VIII gene. Genomics 7, 1-11
12. Levinson B., Kenwrick S., Gamel P., Fisher K., Gitschier J. (1992): Evidence for a third transcript from the human factor VIII gene. Genomics 14, 585--589
13. Liu Q., Sommer S. S. (1998): Subcycling-PCR for multiplex long-distance amplification of regions with high and low GC content: application to the inversion hotspot in the factor VIII gene. Biotechniques 25, 1022-1028
14. Liu Q., Thortland E. C., Heit J. A., Sommer S. S. (1997): Overlapping PCR for bidirectional PCR amplification of specific alleles: a rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes. Genet. Res. 7, 389-398
15. Liu Q., Nozari G., Sommer S. S. (1998): Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 92, 1458-1459
16. Liu J., Liu Q., Liang Y., Wang L., Nozary G., Xiao B., Zhu Z., Zhou Y., Liu L., Guan Y., Zhang J., Sommer S. S. (1999): PCR assay for the inversions causing severe Hemophilia A and its application. Chin. Med. J. (Engl.) 112, 419-423
17. Liu Y., Wang X., Chu H. (2002): Carrier detection and prenatal diagnosis of hemophilia Alpha. Chin. Med. J. (Engl.) 115, 991-994
18. Naylor J. A., Brinke A., Hassock S., Green P., Giannelli F. (1993a): Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum. Mol. Genet. 2, 1773-1778
19. Naylor J. A., Green P. M., Rizza C. R., Giannelli F. (1993b): Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia. A patients. Hum. Mol. Genet. 2, 11-17
20. Naylor J. A., Buck D., Green P., Williamson H., Bentley D., Giannelli F. (1995): Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Hum. Mol. Genet. 4, 1217-1224
21. Poláková. H., Kádasi L., Filová A. (1998): Factor VIII gene inversions in haemophilia A patients of Slovakia. Hum. Hered. 48, 34-37
22. Shuber A. P., Grondin V. J., Klinger K. W. (1995): A simplified procedure for developing multiplex PCRs. Genet. Res. 5, 488-493
23. Tuddenham E. G., Schwaab R., Seehafer J., Millar D. S., Gitschier J., Higuchi M., Bidichandani S., Connor J. M., Hoyer L. W., Yoshioka A., Peake I. R., Olek K., Kazazian H. H., Lavergne J. M., Giannelli F., Antonarakis S. E., Cooper D. N. (1994): Haemophilia A: database of nucleotide substitutions, deletions, insertions, and rearrangements of the factor VIII gene, second edition. Nucleic Acids Res. 22, 4851-4868
24. Vidal F., Farssac E., Altisent C., Puig L., Gallardo D. (2001): Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations. Thromb. Haemost. 85, 580-583
25. Xuefeng W., Yuanfang L., Zhiguang L., Haiyan C., Xiaojie S., Yishi F., Hongli W. (2001): Carrier detection and prenatal diagnosis of hemophilia A. Clin. Chem. Lab. Med. 39, 1204-1208