STP1 and STP2 are genes for the two isoforms of the thermostable (TS) or P form of PST in humans. Biochemical pharmacogenetic studies performed with TS PST in the human platelet have shown that both level of activity and thermal stability of the enzyme(s) are regulated by genetic polymorphisms. Our goal was to determine the molecular basis for TS PST genetic polymorphism(s) in human tissue. DNA was isolated from 3 liver samples with low and 3 with high thermal stability and activity. STP1 coding exons were amplified from this DNA. Two alleles were detected, STP1*1 and STP1*2. A PCR-based restriction digestion assay was used to genotype an additional 56 phenotyped liver samples. There was a significant correlation between TS PST phenotype and genotype for the two STP1 alleles. Since STP1 and STP2 are in close proximity on chromosome 16, common alleles for STP2 might be linked with the two STP1 alleles. We amplified coding exons for STP2 in DNA from the 6 original liver samples. Two STP2 alleles, STP2*1 and STP2*2, were present and were linked to the two STP1 alleles. In summary, these results demonstrate the presence of at least two common alleles for STP1 and STP2 that correlate with TS PST phenotype in the human liver.
|Original language||English (US)|
|Number of pages||1|
|Journal||Clinical pharmacology and therapeutics|
|State||Published - Dec 1 1997|
ASJC Scopus subject areas
- Pharmacology (medical)