Registry of DNA Polymorphisms Within or Close to the Human Factor VIII and Factor IX Genes

Ian Peake

doi:10.1055/s-0038-1648425

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1992; 67(02): 277-280
DOI: 10.1055/s-0038-1648425

Scientific and Standardization Gommittee Gommunications

Schattauer GmbH Stuttgart

Registry of DNA Polymorphisms Within or Close to the Human Factor VIII and Factor IX Genes

For the Factor VIII/IX Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis

Ian Peake

The University of Sheffield, Department of Medicine and Pharmacology, Section of Molecular Genetics, Royal Hallamshire Hospital, Sheffield, UK

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Abstract

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References

References
1 Gitschier J, Drayna D, Tuddenham EGD, White RL, Lawn RL. A Bell polymorphism in the factor VIII gene enables genetic mapping diagnosis of haemophilia A. Nature 1985; 314: 730-734
2 Kogan SC, Doherty N, Gitschier J. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences: Application to haemophilia A. New Engl J Med 1987; 317: 985-990
3 Wion KL, Tuddenham EGD, Lawn RM. A new polymorphism in the factor VIII gene for prenatal diagnosis of haemophilia A. Nucl Acids Res 1986; 14: 4535-4542
4 Chan V, Tong TMF, Chan TPT, Tang M, Wan CW, Chan FY, Chu YC, Chan TK. Multiple Xbal polymorphisms for carrier detection and prenatal diagnosis of haemophilia A. Br J Haematol 1989; 73: 497-500
5 Antonarakis SE, Waber PG, Kittur SD, Patel AS, Kazazian HH, Mellis MA, Counts RB, Stamatoyannopoulos G, Bowie EJW, Fass DN, Pittman DD, Wozney JM, Toole JJ. Haemophilia A: Detection of molecular defects and of carriers by DNA analysis. New Engl J Med 1985; 313: 842-848
6 Ahrens P, Kruse TA, Schwartz M, Rasmussen PB, Din N. A new Hindlll restriction fragment length polymorphism in the haemophilia A locus. Hum Genet 1987; 76: 127-128
7 Graham JB, Kunkel GR, Fowlkes DN, Lord ST. The utility of a Hindlll polymorphism of factor VIII examined by rapid DNA analysis. Br J Haematol 1990; 76: 75-79
8 Youssoufian H, Phillips DE, Kazazian HH, Antonarakis SE. MspI polymorphism in the 3’ flanking region of the human factor VIII gene. Nucl Acids Res 1987; 15: 6312
9 Inaba H, Fujimaki M, Kazazian HH. Antonarakis SE. MspI polymorphism site in intron 22 of the factor VIII gene in the Japanese population. Hum Genet 1990; 84: 214-215
10 Kenwick S, Bridge P, Lillicrap D, Lehesjoki AE, Bainton J, Gitschier J. A TaqI polymorphism adjacent to the factor VIII gene (F8C). Nucl Acids Res 1991; 19: 2513
11 Lalloz MRA, McVey HH, Pattinson JK, Tuddenham EGD. Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the human factor VIII gene. Lancet 1991; ii: 207-211
12 Harper K, Pembrey ME, Winter RM, Hartley D, Tuddenham EGD. A clinically useful DNA probe closely linked to haemophilia A. Lancet 1984; ii: 6-8
13 Jedlicka P, Greer S, Millar DS, Grundy CB, Jenkins E, Mitchell M, Mibashan RS, Kakkar W, Cooper DN. Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus. Hum Genet 1990; 85: 315-318
14 Paterson MN, Gitschier J, Bloomfield J, Bell M, Dorkins H, Froster-Iskenius U, Sommer S, Sobell J, Schaid D, Thibodeau S, Davies KE. An intronic region within the human factor VIII gene is duplicated within Xq29 and is homologous to the polymorphic locus DXS115 (767). Am J Hum Genet 1989; 44: 679-685
15 Arveiler B, Oberle I, Vincent A, Hofker MH, Pearson PL, Mandel JL. Genetic mapping of the q27-q28 region: new RFLP markers useful for diagnosis applications in fragile-X and haemophilia B families. Am J Hum Genet 1988; 42: 380-389
16 Oberle I, Camerino G, Heilig R. Genetic screening for haemophilia A (classic haemophilia) with a polymorphic probe. New Engl J Med 1985; 312: 682-686
17 Richards B, Heilig R, Oberle I, Storjohann L, Horn GT. Rapid PCR analysis of the ST14 (DXS52) VNTR. Nucl Acids Res 1991; 91: 1944
18 Giannelli F, Anson DS, Choo KH, Rees DJG, Winship PR, Ferrari N, Rizza CR, Brownlee GG. Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency). Lancet 1984; i: 239-241
19 Bowen DJ, Thomas P, Webb CE, Bignell P, Peake IR, Bloom AL. Facile and rapid analysis of the DNA polymorphisms within the human factor IX gene using the polymerase chain reaction. Br J Haematol 1991; 17: 559-560
20 Winship PR, Anson DS, Rizza CR, Brownlee GG. Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms. Nucl Acids Res 1984; 12: 8861-8872
21 Camerino G, Oberle I, Drayna O, Mandel JL. A new MspI restriction fragment length polymorphism within the haemophilia B locus. Hum. Genet 1985; 71: 79-81
22 Winship PR, Rees DJG, Alkan M. Detecting polymorphisms at CpG dinucleotides using the polymerase chain reaction procedure: Application to the diagnosis of haemophilia B carriers. Lancet 1989; i: 631-634
23 Hay CW, Robertson KA, Yong S-L, Thompson AR, Growe GH, MacGillivray RTA. Use of a BamHI polymorphism in the factor IX gene for the determination of haemophilia B carrier status. Blood 1986; 67: 1508-1511
24 Zhang M, Chen S-H, Scott CR, Thompson AR. The factor IX BamHI polymorphism: CpG transversion at the nucleotide sequence - 561. Hum Genet 1989; 82: 283-284
25 Driscoll MC, Dispenzieri A, Tobias E, Miller CH, Aledort LM. A second BamHI DNA polymorphism and haplotype association in the factor IX gene. Blood 1988; 72: 61-65
26 Winship PR, Brownlee GG. Diagnosis of haemophilia B carriers using intragenic oliogonucleotide probes. Lancet 1986; ii: 218-219
27 Graham JB, Kunkel GR, Tennyson GS, Lord ST, Foulkes DN. The Malmo polymorphism of factor IX: Establishing the genotypes by rapid analysis of DNA. Blood 1989; 73: 2104-2107
28 Mulligan L, Holden JJA, White BN. A DNA marker closely linked to the factor IX (haemophilia B) gene. Hum Genet 1987; 75: 381-383
29 Chan V, Chan TK, Lui VWS, Wong ACK. Restriction fragment length polymorphisms associated with factor Vili : C gene in Chinese. Hum Genet 1988; 79: 128-131
30 Suehiro K, Tanimoto M, Hamaguchi M, Kojima T, Takamatsu J, Ogata K, Kamiya T, Saito H. Carrier detection in Japanese hemophilia A by use of three intragenic and two extragenic factor VIII DNA probes: A study of 24 kindreds. J Lab Clin Med 1988; 112: 314-318
31 Van-der-Water NS, Ridgway D, Ockelford PA. Restriction fragment length polymorphisms associated with the factor VIII and factor IX in Polynesians. J Med Genet 1991; 28: 171-176
32 Lubahn DB, Lord ST, Bosco J, Kirshtein J, Jeffries OJ, Parker N, Levtzow C, Silverman LM, Graham JB. Population genetics of coagulation factor IX: Frequencies of two DNA polymorphisms in five ethnic groups. Am J Hum Genet 1987; 40: 527-536
33 Kojima T, Tanimoto M, Kamiya T, Obata Y, Takahashi T, Ohno R, Kurachi K, Sai to H. Possible absence of common polymorphisms in coagulation factor IX gene in Japanese subjects. Blood 1987; 69: 349-352
34 Scott CR, Chen SH, Schoof J, Kurachi K. Haemophilia B: population differences in RFLP frequencies useful for carrier detection. Am J Hum Genet 1987; 41: A262 (suppl)
35 Cullen Cr, Hubberman P, Kaslow DC, Migeon BR. Comparison of factor IX méthylation on human active and inactive X-chromosomes: implications for X inactivation and transcription of tissue-specific genes. EMBO J 1986; 5: 2223-2229
36 Thompson AR, Chen SH, Smith KJ. Diagnostic role of an immunoassay detected polymorphism of factor IX for potential carriers of haemophilia B. Blood 1988; 72: 1633-1638
37 Tanimoto A, Kojima T, Ogata K, Hamaguchi M, Takamatsu J, Kamiya T, Saito H. Extragenic factor IX gene RFLP is useful for detecting carriers of Japanese haemophilia B. Acta Haematol Jpn 1989; 52: 92-95
38 Graham JB, Kunkel GR, Egilmez NK, Wallmark A, Fowlkes DM, Lord ST. The varying frequencies of five DNA polymorphisms of X-linked coagulant Factor IX in eight groups. Am J Hum Genet. 1991 (in press)