title: The polymorphism of core promoter region on metallothionein 2A-metal binding protein in Turkish population.
abstract: Metallothioneins are low molecular weight proteins composed of 61-68 amino acid residues, and are characterized by high cysteine content with lack of aromatic amino acids. Because of their rich thiol content, Metallothioneins have crucial biological functions including cell proliferation and apoptosis, homeostasis of essential metals, cellular free radical scavenging, and metal detoxification. In this study, we examined metallothionein 2A isoform in 122 kidney tissues from autopsy cases and 186 blood samples from volunteers and detected A --> G single-nucleotide polymorphism in metallothionein 2A core promoter region of Turkish population. The promoter region of metallothionein 2A was amplified with the PCR technique and the amplified oligonucleotides were digested with BsgI restriction enzyme. The genotype frequencies of the single-nucleotide polymorphism in the societies' metallothionein 2A core promoter region were determined as follows: 87% homozygote typical, 12.3% heterozygote and 0.7% homozygote atypical genotype. The allele frequencies were consistent with Hardy-Weinberg equilibrium (chi(2) = 0.2719; P > 0.05).
authors: Institute of Forensic Medicine, Ankara University, Ankara, Turkey. kayaalti@medicine.ankara.edu.tr
authors: Zeliha
authors: Z
authors: Kayaalti
authors: Tülin
authors: T
authors: Söylemezoğlu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008668:Metallothionein / Q000235:genetics*; D008670:Metals / Q000378:metabolism*; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic; D011485:Protein Binding; D014421:Turkey; D055815:Young Adult
chemical_list: C491053:MT2A protein, human; D008670:Metals; D008668:Metallothionein