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The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence-561

The BamHI/MSPI haplotypes in blacks and causasians

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Summary

The polymerase chain reaction (PCR) method was used to amplify a 356-bp DNA segment containing the suspected BamHI polymorphic site of the factor IX gene. Following the enzyme digestions and gel electrophoresis, polymorphic genotypes (-,+ and +/- types) were observed. The gene frequencies for the rare (+) allele are about 36% in blacks and 2% in Caucasians. The 356-bp DNA was further purified and sequenced. The sequencing gels revealed a single nucleotide substitution (T to G) at position-561 of the gene in blacks and Causians. The T-to-G transversion generated a new BamHI site (GGATCC,+type) from a nonenzymatic site, (TGATCC,-type).

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References

  • Chen S-H, Yoshitake S, Chance PF, Bray GL, Thompson AR, Scott CR, Kurachi K (1985) Intragenic deletion of the factor IX gene in a family with hemophilia B. J Clin Invest 76:2161–2164

    Google Scholar 

  • Freedenberg DL, Chen S-H, Kurachi K, Scott CR (1987) MspI Polymorphism site with the factor IX gene. Hum Genet 76:262–264

    Google Scholar 

  • Hay CW, Robertson KA, Yong SN, Thompson AR, Growe GH, MacGillivray RTA (1986) Use of BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status. Blood 67:1508–1511

    Google Scholar 

  • Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi RG, Horn TT, Mullis KB, Erlich HA (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487–491

    Google Scholar 

  • Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chaintermination inhibitors. Proc Natl Acad Sci USA 74:5463–5467

    Google Scholar 

  • Yoshitake S, Schach BG, Foster D, Davie EW, Kurachi K (1985) Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry 24:3736–3750

    Google Scholar 

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Zhang, M., Chen, SH., Scott, C.R. et al. The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence-561. Hum Genet 82, 283–284 (1989). https://doi.org/10.1007/BF00291171

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  • DOI: https://doi.org/10.1007/BF00291171

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