The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence -561. The BamHI/MSPI haplotypes in blacks and Caucasians

Hum Genet. 1989 Jun;82(3):283-4. doi: 10.1007/BF00291171.


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 Caucasians. The T-to-G transversion generated a new BamHI site (GGATCC,+type) from a nonenzymatic site, (TGATCC,-type).

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Black People / genetics*
  • DNA-Directed DNA Polymerase
  • Deoxyribonuclease BamHI*
  • Factor IX / genetics*
  • Haplotypes
  • Humans
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length*
  • White People


  • Factor IX
  • DNA-Directed DNA Polymerase
  • Deoxyribonuclease BamHI