Summary
Twenty-six unrelated hemophilia A and 70 unrelated normal chromosomes in 184 subjects were studied to determine the frequencies of intragenic and intergenic restriction fragment length polymorphisms associated with the factor VIII:C gene. The incidences for positive BclI and BglI polymorphic sites in the Chinese were 82% and 100%, respectively. Both were higher than in other ethnic groups, while the incidence for XbaI polymorphism was 57%, which is similar to that reported in Caucasians. Using the St 14.1 probe, two polymorphic TaqI allelic systems in the DXS52 region were detectable, with heterozygous rates of 0.712 (for system I, alleles 1 to 8) and 0.495 (for system II, α and β alleles), respectively. Thus, using a combination of four polymorphisms, it would be possible to offer carrier detection or prenatal diagnosis in 96% of Chinese females at risk.
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Antonarakis SE, Copeland KL, Carpenter RJ Jr, Carta CA, Hoyer LW, Caskey CT, Toole JJ, Kazazian HH Jr (1985a) Prenatal diagnosis of haemophilia A by factor VIII gene analysis. Lancet I: 1407–1409
Antonarakis SE, Waber PG, Kittur SD, Patel AS, Kazazian HH Jr, Mellis MA, Counts RB, Stamatoyannopoulos G, Bowie EJW, Faas DN, Pittman DD, Wozney JM, Toole JJ (1985b) Detection of molecular defects and of carriers by DNA analysis. N Engl J Med 313:842–848
Chan V, Chan TK, Cheng MY, Leung NK, Kan YW, Todd D (1986) Characteristics and distribution of β thalassemia haplotypes in South China. Hum Genet 73:23–26
Driscoll MC, Miller CH, Goldberg JD, Aledort LM, Hoyer LW, Golbus MS (1986) Recombination between factor VIII:C gene and St14 locus. Lancet II:279
Elston RC, Graham JB, Miller CH, Reisner HM, Bouma BN (1976) Probabilistic classification of hemophilia A carriers by discriminant analysis. Thromb Res 8:683–685
Firshein SI, Hoyer LW, Lazarchick J, Forget BG, Hobbins JC, Clyne LP, Pitlick FA, Muir WA, Merkatz IR, Mahoney MJ (1979) Prenatal diagnosis of classic hemophilia. N Engl J Med 300:937–941
Galjaard H (1980) Prevention of sex-linked diseases. In: Genetic metabolic diseases. Elsevier, New York Amsterdam, pp 701–742
Gitscher J, Drayna D, Tuddenham EGD, White RL, Lawn RM (1985a) Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. Nature 314:738–740
Gitscher J, Lawn RM, Rotblat F, Goldman E, Tuddenham EGD (1985b) Antenatal diagnosis and carrier detection of haemophilia A using factor VIII gene probe. Lancet I:1093–1094
Gitscher J, Wood WI, Tuddenham EGD, Shuman MA, Goralka TM, Chen EY, Lawn RM (1985c) Detection and sequence of mutations in the factor VIII gene of haemophiliacs. Nature 315:427–430
Goossens M, Kan YW (1981) DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol 76:805–817
Harper K, Winter RM, Pembrey ME, Hartley D, Davies KE, Tuddenham EGD (1984) A clinically useful DNA probe closely linked to haemophilia A. Lancet II:6–8
Hong Kong Society of Haematology (1982) Haemophilia committee report
Janco RL, Phillips JA III, Orlando P, Davies KE, Old J, Antonarakis SE (1986) Carrier testing strategy in haemophilia A. Lancet I:148–149
Lehesjoki A-E, Chapelle A de la, Rasi V (1986) Haemophilia A: two recombinations detected with probe St 14. Lancet II:280
Oberlé I, Camerino G, Heilig R, Grunebaum L, Cazenave J-P, Crapanzano L, Mannucci PM, Mandel J-L (1985a) Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe. N Engl J Med 312:682–686
Oberlé I, Drayna D, Camerino G, White R, Mandel J-L (1985b) The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci USA 82:2824–2828
Orkin SH, Antonarakis SE, Kazazian HH Jr (1983) Polymorphism and molcular pathology for the human beta globin gene. Prog Hematol 13:49–73
Peake IR, Bloom AL (1986) Recombination between genes and closely linked polymorphisms. Lancet I:1335
Peake IR, Newcomb RG, Davies BL, Furlong RA, Ludlam AL (1981) Carrier detection of haemophilia A by immunological measurement of factor VIII related antigen (VIII RAg) and factor VIII clotting antigen (VIII CAg). Br J Haematol 48:651–660
Winter RM, Harper K, Goldman E, Mibashan RS, Warren RL, Rodeck CH, Penketh RJA, Ward RHT, Hardisty RM, Pembrey ME (1985) First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13. Br Med J 291:765–769
Wion KL, Tuddenham EGD, Lawn RM (1986) A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A. Nucleic Acids Res 14:4535–4542
Youssoufian H, Antonarakis SE, Aronis S, Tsiftis G, Phillips DG, Kazazian HH Jr (1987) Characterization of five partial deletions of the factor VIII gene. Proc Natl Acad Sci USA 84:3772–3776
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Chan, V., Chan, T.K., Liu, V.W.S. et al. Restriction fragment length polymorphisms associated with factor VIII: C gene in Chinese. Hum Genet 79, 128–131 (1988). https://doi.org/10.1007/BF00280550
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DOI: https://doi.org/10.1007/BF00280550