Abstract
Lead-induced toxicity varies among individuals partly because of genetic differences in their susceptibility to the metal’s effects. One genetic polymorphism associated with lead toxicity is a G-to-C transversion at position 177 in the coding region of delta-aminolevulinic acid dehydratase (ALAD), originating from two codominant alleles (ALAD1 and ALAD2). We examined the distribution of this single nucleotide polymorphism in two populations from the Iberian Peninsula. Genomic DNA was extracted from whole blood, and a real-time PCR assay was designed to determine ALAD polymorphic distribution. The distribution of MspI polymorphism was similar in the two populations studied, and allelic frequencies were comparable to those obtained in other studies of Caucasians. Further studies are needed to assess fully the functional significance of this polymorphism and its influence on the toxicokinetics of lead.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Amorim A, Rocha J, Santos MT (1994) Distribution of ACP1, AK1 and ALAD polymorphisms in northern Portugal. Gene Geogr 8:147–150
Battistuzzi G, Petrucci R, Silvagni L (1981) Delta-aminolevulinate dehydrase: a new genetic polymorphism in man. Ann Hum Genet 45:223–229
Caeiro B, Rey D (1985) Genetic heterogeneity of Δ-aminolevulinate dehydrase and phosphoglycolate phosphatase in North-West Spain. Hum Hered 35:21–24
Fujita H, Nishitani C, Ogawa K (2002) Lead, chemical porphyria, and heme as a biological mediator. Tohoku J Exp Med 196:53–64
Kelada SN, Shelton E, Kaufmann RB, Khoury MJ (2001) Delta-aminolevulinic acid dehydratase genotype and lead toxicity: A HuGE review. Am J Epidemiol 154:1–13
Onalaja A, Claudio L (2000) Genetic susceptibility to lead poisoning. Environ Health Perspect 108:23–28
Pérez-Bravo F, Ruz M, Morán-Jiménez MJ, Olivares M, Rebolledo A, Codoceo J, Sepúlveda V, Jenkin A, Santos JL, Fontanellas A (2004) Association between aminolevulinate dehydrase genotypes and blood lead levels in children from a lead-contaminated area in Antofagasta, Chile. Arch Environ Contam Toxicol 47:276–280
Schwartz BS, Lee B-K, Stewart W, Ahn K-D, Springer K, Kelsey K (1995) Associations of delta-aminolevulinic acid dehydratase genotype with plant, exposure duration, and blood lead and zinc protoporphyrin levels in Korean lead workers. Am J Epidemiol 142:738–745
Schwartz BS, Lee BK, Stewart W, Sithisarankul P, Strickland PT, Ahn KD, Kelsey K (1997) Delta-aminolevulinic acid dehydratase genotype modifies four hour urinary lead excretion after oral administration of dimercaptosuccinic acid. Occup Environ Med 54:241–246
Scinicariello F, Murray H, Moffett D, Abadin H, Sexton M, Fowler B (2007) Lead and Δ-aminolevulinic acid dehydratase polymorphism: where does it lead? A meta-analysis. Environ Health Perspect 115:35–41
Wetmur JG, Bishop DF, Cantelmo C, Desnick RJ (1986) Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone. Proc Natl Acad Sci USA 83:7703–7707
Wetmur JG, Kaya AH, Plewinska M, Desnick RJ (1991) Molecular characterization of the human delta-aminolevulinate dehydratase 2 allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning. Am J Hum Genet 49:757–763
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Moreira, A.O., Almeida, A., Costa, S. et al. Genotyping an ALAD Polymorphism with Real-Time PCR in Two Populations from the Iberian Peninsula. Biochem Genet 50, 560–564 (2012). https://doi.org/10.1007/s10528-012-9500-x
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10528-012-9500-x