Polimorfismo del gen de la tiopurina S-metiltransferasa en donantes de sangre de un hospital universitario / Thiopurine S-methyltransferase gene polymorphism in Chilean blood donors
Rev. méd. Chile
;
137(2): 185-192, feb. 2009. ilus, tab
Article
in Spanish
| LILACS
| ID: lil-516082
ABSTRACT
Background:
Thiopurine S- methyltransferase (TPMT) is a cytosolic enzyme that catalyzes the S-methylation of 6-mercaptopurine and azathioprine. Lowactivity phenotypes are correlated with polymorphism in the TPMT gene. Patients with low or undetectable TMPT activity could develop severe myelosuppression when they are treated with standard doses of thiopurine drugs. Since ethnic differences in the TPMT gen polymorphism have been demonstrated worldwide, its assessment in the Chilean population is worthwhile.Aim:
To investigate the TMPT gene polymorphism in a Chilean blood donor individuals. Subjects andMethods:
The frequency of four allelic variants of the TPMT gene, *2 (G238C), *3A (G460A and A719G), *3B (G460A) and *3C (A719G) were analyzed in 210 Chilean blood donors, using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP) and allele-specific PCR-based assays.Results:
TPMT variants associated to low enzymatic activity, were detected in 16 subjects (8%), who had a heterozygous genotype (*3A in 12; *3C in three and *2 in one subject). No TPMT*3B allelic variant was found. The normal allele (wild-type) was found in 92% of studied individuals.Conclusions:
The allele TPMT*3A, is the most prevalent in this group of Chilean blood donors, as in Caucasian populations.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Polymorphism, Genetic
/
Blood Donors
/
Gene Frequency
/
Methyltransferases
Limits:
Adult
/
Aged
/
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Chile
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2009
Type:
Article
/
Project document
Affiliation country:
Chile
Institution/Affiliation country:
Hospital Clínico Universidad de Chile/CL
Similar
MEDLINE
...
LILACS
LIS