RESEARCH PAPER
Frequency of SNP genetic polymorphisms in δ- aminolevulinate dehydratase gene in population of children from Upper and Lower Silesia
 
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1
Instytut Medycyny Pracy i Zdrowia Srodowiskowego, Zakład Toksykologii Genetycznej, Kierownik Zakładu: dr n. przyr. Agata Kowalska-Pawlak
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Instytut Medycyny Wsi im. W. Chodźki w Lublinie, Samodzielna Pracownia Biologii Molekularnej, Kierownik Pracowni: dr n. med. Lucyna Kapka
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Wyższa Szkoła Informatyki i Zarządzania w Rzeszowie, Katedra Zdrowia Publicznego, Kierownik Katedry: prof. zw. dr hab. n. med. Leszek Wdowiak
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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
 
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.
 
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