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).
References
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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