Delta-aminolevulinic acid dehydratase (ALAD) genetic polymorphism in Turkish population

Delta-aminolevulinik asit dehidrataz hem biosentetik yolağında yer alan bir enzimdir. ALAD kurşun tarafından inhibe olmaktadır. Bu enzim polimorfiktir ve ALAD1 ve ALAD2 diye 2 aleli vardır. Bu aleller 177. kodlama nükleotidi olan guaninin sitozine çapraz baz değişimi ile ayrılırlar. Bu baz değişimi, polimeraz zincir reaksiyonu kesilmiş parça uzunluk polimorfizmi (PCR-RFLP) yönteminin ALAD geninin genotiplemesi için uygulanmasına olanak sağlar. Bu çalışmada, ALAD genindeki polimorfizm PCR-RFLP metodu kullanılarak bir Türk populasyonunda incelenmiştir. ALAD1 frekansı 0.81 olarak bulunmuştur. Bu sonucun diğer populasyon örnekleriyle karşılaştırılması, ALAD gen polimorfizminde etnik gruplar arasında önemli farklılığın olduğunu göstermektedir.

Türk populasyonunda delta-aminolevulinik asit dehidrataz (ALAD) genetik polimorfizmi

Delta-aminolevulinic acid dehydratase (ALAD) is an enzyme involved in the heme biosynthetic pathway. ALAD is inhibited by lead. This enzyme is polymorphic with two alleles, ALAD1 and ALAD2. These alleles differ by a single base pair change, a guanine to cytosine transversion of coding nucleotide 177. This base substitution permits to apply a polymerase chain reaction-restriction fragment lenght polymorphism (PCR-RFLP) assay for genotyping the ALAD gene. In this study, polymorphism of the ALAD gene has been investigated in a Turkish population using PCR-RFLP method. The frequency of the significant difference exists among ethnic groups in ALAD gene polymorphism.

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