Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2007-07

AUTHORS

E. Oliveira, S. Quental, S. Alves, A. Amorim, M. J. Prata

ABSTRACT

Genetic data on the thiopurine S-methyltransferase (TPMT) polymorphism were obtained in population samples from Cabinda and Mozambique (located in the western and eastern coasts of sub-Saharan Africa, respectively). The overall frequency of TPMT-deficient alleles was 5.6% in Mozambique and 6.3% in Cabinda. Accordingly, one out of the 103 individuals from Cabinda tested had a genotype associated with TPMT deficiency, yielding a frequency that is threefold higher than heretofore reported in any population. In addition, in both Cabinda or Mozambique, TPMT*8 accounted for a significant proportion of non-functional alleles (nearly 40% in Cabinda). Since the substitution defining TPMT*8 seems to be highly specific of sub-Saharan Africa populations and given the fact it has not been integrated into the set of single nucleotide polymorphisms routinely tested for TPMT, a re-design of molecular screenings should be considered in the future in order to avoid serious underestimates of TPMT deficiency when the enzymatic profiles in populations are unknown. More... »

PAGES

703-706

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00228-007-0310-8

DOI

http://dx.doi.org/10.1007/s00228-007-0310-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1040709051

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/17473918


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