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A PstI polymorphism detects the mutation of serine128 to arginine in CD 62E gene - a risk factor for coronary artery disease.
- Source :
-
Journal of biomedical science [J Biomed Sci] 1999 Jan; Vol. 6 (1), pp. 18-21. - Publication Year :
- 1999
-
Abstract
- The mutation of serine128 to arginine in the CD 62E gene is a risk factor for coronary artery disease (CAD). We designed a new method to detect this mutation based on the observation that it is due to a transversion of nucleotide A561 to C, which abolishes a PstI recognition site. Two alleles, A and C, are easily typed when genomic DNA is amplified by PCR, digested with PstI, and separated on agarose gels. Among 153 people who underwent an elective, diagnostic arteriography in Johns Hopkins Hospital, we found that the C allele accounts for 19.5% in angiographically documented CAD patients (n = 82). It is significantly higher than the 10.6% frequency observed in normal controls (n = 71, p < 0.05). It indicates that the C allele is associated with early-onset CAD. This new method should facilitate the screening of this mutant allele in large populations and contribute to the understanding of the molecular mechanism underlying the association of this mutation with CAD.
- Subjects :
- Alleles
Amino Acid Substitution
Angiography
Coronary Disease diagnostic imaging
DNA Mutational Analysis methods
Exons
Female
Gene Frequency
Heterozygote
Humans
Male
Middle Aged
Reference Values
Arginine genetics
Coronary Disease genetics
Deoxyribonucleases, Type II Site-Specific genetics
E-Selectin genetics
Mutation
Polymorphism, Genetic
Serine genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1021-7770
- Volume :
- 6
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Journal of biomedical science
- Publication Type :
- Academic Journal
- Accession number :
- 9933738
- Full Text :
- https://doi.org/10.1007/BF02256419