RESEARCH PAPER
Frequency of SNP genetic polymorphisms in δ- aminolevulinate dehydratase gene in population of children from Upper and Lower Silesia
1
Instytut Medycyny Pracy i Zdrowia Srodowiskowego, Zakład Toksykologii Genetycznej, Kierownik Zakładu: dr n. przyr. Agata Kowalska-Pawlak
2
Instytut Medycyny Wsi im. W. Chodźki w Lublinie, Samodzielna Pracownia Biologii Molekularnej, Kierownik Pracowni: dr n. med. Lucyna Kapka
3
Wyższa Szkoła Informatyki i Zarządzania w Rzeszowie, Katedra Zdrowia Publicznego,
Kierownik Katedry: prof. zw. dr hab. n. med. Leszek Wdowiak
4
Akademia Medyczna im. Piastów Śląskich we Wrocławiu, Katedra Higieny i Epidemiologii, Kierownik Katedry: dr hab. n. med. Krystyna Pawlas
Corresponding author
Elżbieta Olewińska
Zakład Toksykologii Genetycznej Instytut Medycyny Pracy i Zdrowia Środowiskowego ul. Kościelna 13; 41-200 Sosnowiec tel. (32) 266 08 85; fax (32) 266 11 24
Zakład Toksykologii Genetycznej Instytut Medycyny Pracy i Zdrowia Środowiskowego ul. Kościelna 13; 41-200 Sosnowiec tel. (32) 266 08 85; fax (32) 266 11 24
Med Srod. 2010;13(1):52-59
KEYWORDS
ABSTRACT
Delta-aminolevulinic acid dehydratase (ALAD) is an enzyme involved in heme biosynthesis pathway. ALAD is
a polymorphic gene which shows differences in the distribution in different populations and ethnic groups.
The aim of this study was to estimate the frequency of three SNP genetic polymorphisms in delta-aminolevulinate
dehydratase gene: G/C (Lys68Asn) in exon 4 (rs 1800435), A/G in intron 3 (rs 8177800) and C/T (Tyr65Tyr) in exon 4 (rs 1139488) in caucasian population of children from Upper and Lower Silesia. In order to genotype identification, the genomic DNA was extracted from venous blood. The interesting fragments of ALAD gene was amplified in PCR (polymerase chain reaction) reaction with appropriate primers and reaction conditions and then the RFLP technique (restriction fragment length polymorphism) was used. The rs 1800435 polymorphism was also analyzed with real-time PCR reaction with TaqMan probes. The frequencies of the alleles and genotypes for rs 1800435 and rs 1139488 were similar to those reported in other European populations. The frequency of minor allel A for 8177800 was twofold higher then in other populations.
REFERENCES (28)
1.
Toscano C.D., Guilarte T.R.: Lead neurotoxicity: from exposure to molecular effects. Brain Res Rev 2005; 49: 529-554.
2.
Lanphear B.P., Roghmann K.J.: Pathways of lead exposure in urban children. Environ Res. 1997; 74: 67-73.
3.
Kakkar P., Jaffery F.N.: Biological markers for metal toxicity. Environmental Toxicology and Pharmacology 2005; 19:335- 349.
4.
Onalaja A.O., Claudio L.: Genetic susceptibility to lead poisoning. Environ. Health Perspect. 2000; 108:23-28.
5.
Kapka L., Pawlas N., Olewiƒska E., KozΠowska A., Pawlas K.: Rola genu ALAD w patogenezie szkodliwego działania ołowiu w populacjach dzieci narażonych środowiskowo na ołów – analiza piśmiennictwa. Medycyna Środowiskowa, 2007; 10 (2), 83-90.
6.
Silbergeld E.K., Waalkes M., Rice J.M.: Lead as a carcinogen: experimental evidence and mechanisms of action. Am.J.Ind.Med. 2000; 38:316-323.
7.
Kelada S.N. i wsp.: ?-aminolevulinic acid dehydratase genotype and lead toxicity: a HuGe review. Am. J. Epidemiol. 2001;. 154 (1), 1-13.
8.
Silbergeld E.K.: Facilitative mechanisms of lead as carcinogen. Mutat. Res. 2003; 533: 121-133.
9.
Wetmur J.G. i wsp.: "Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone.". Proc. Natl. Acad. Sci. U.S.A. 1986; 83: 7703–7707.
10.
Battistuzzi G. i wsp.: delta-Aminolevulinate dehydrase: a new genetic polymorphism in man. Ann.Hum.Genet. 1981; 45:223-229.
11.
Bergdahl I.A.: Lead-binding proteins – a way to understand lead toxicity? Analysis 1998; 26 (6): 81-84.
12.
Wetmur J.G. i wsp.: Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning. Am.J.Hum.Genet. 1991; 49: 757-763.
13.
Wetmur J.G, Lehnert G., Desnick R.J.: The delta-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes. Environ. Res. 1991; 56:109-119.
14.
Scinicariello F. i wsp.: Lead and ?-aminolevulinic acid dehydtratase polymorphism: where does it lead? A meta-analysis. Environ. Health Perspect. 2007; 115:35-41.
15.
Rabstein S. i wsp.: Lacko f association of delta-aminolevulinate dehydratase polymorphisms with blond lead levels and hemoglobin In Romanian women from a lead-contaminated region. J. Toxicol. Environ. Health 2008, 71: 716-724.
16.
Chia, S.E., Zhou, H.J., Tham, M.T., Yap, E., Dong, N.V., Tu, N.T.H., Chia, K.S.: Possible influence of delta-aminolevulinic acid dehydratase polymorphism and susceptibility to renal toxicity of lead: a study of a Vietnamese population. Environ. Health Perspect. 2005; 113, 1313–1317.
17.
Chia, S.E. i wsp.: Possibilities of newer ALAD polymorphism influencing human susceptibility to effects of inorganic lead on the neurobehavioral functions. NeuroToxicology. 2007; 28: 312-317.
19.
Benkmann H. G., Bogdanski P., Godde H. W.: Polymorphism of delta-aminolevulinic acid dehydratase in various populations. Hum. Hered. 1983, 33:62-64.
20.
Kapotis Ch. i wsp.: The genetic polymorphism of aminolevulinate dehydratase (ALADH) inGreece. Hum. Hered. 1998, 48:155-157.
21.
Raczek E.: Polymorphism of delta-aminolevulinate dehydratase in the Upper Silesian population, Poland, Hum. Hered. 1994; 44:172-174.
22.
Petrucci R., Leonardi A., Battistuzzi G.: The genetic polymorphism of delta aminolevulinate dehydrase in Italy. Hum. Genet. 1982, 60:289-290.
23.
Süzen H.S., Dudu Y., Aydin A.: Molecular analysis of deltaaminolevulinic acid dehydratase (ALAD) gene polymorphism in a Turkish population. Biochem. Genet. 2004, 42: 461-467.
24.
Kapka L. Rozprawa doktorska. Biomarkery wczesnych skutków biologicznych i wrażliwości osobniczej u dzieci narażonych Środowiskowo na ołów. Śląska Akademia Medyczna, (2006).
25.
Ben-Ezzer J., Oelsner H., Szeinberg A. Genetic polymorphism of delta-aminolevulinate dehydrase in several population groups in Israel. Hum. Hered. 1987, 37:229.
26.
Fujihara J i wsp.: Ethnic variation in genotype frequencies of delta-aminolevulinic acid dehydratase (ALAD). Toxicol. Lett. doi: 10.1016/j.toxlet.2009.09.005.
27.
Pérez-Bravo F. i wsp.: Association between aminolevulinate dehydrase genotypes and blood lead levels in children from a lead-contaminated area in Antofagasta, Chile. Arch. Environ. Contam. Toxicol. 2004; 47:276-80.
28.
Montenegro M.F. i wsp.: Ethnicity affects the distribution of delta-aminolevulinic acid dehydratase (ALAD) genetic variants. Clinica Chemica Acta 2006; 367: 192–195.
Share
RELATED ARTICLE
| eISSN: | 2084-6312 |
| ISSN: | 1505-7054 |
We process personal data collected when visiting the website. The function of obtaining information about users and their behavior is carried out by voluntarily entered information in forms and saving cookies in end devices. Data, including cookies, are used to provide services, improve the user experience and to analyze the traffic in accordance with the Privacy policy. Data are also collected and processed by Google Analytics tool (more).
You can change cookies settings in your browser. Restricted use of cookies in the browser configuration may affect some functionalities of the website.
You can change cookies settings in your browser. Restricted use of cookies in the browser configuration may affect some functionalities of the website.
