title: Radiation accidents in the Southern Urals (1949-1967) and human genome damage.
abstract: A series of radioactive catastrophes (from 1948 to 1967) in the Southern Urals in the USSR led to intensive environmental contamination. Radioactive wastes were dispersed over the 20000 km(2) territory of four provinces-Chelyabinsk, Sverdlovsk, Tyumen' and Kurgan-due to the activity of the military facility that was built in 1948 for the production of nuclear bomb plutonium. The results of 50 years of investigations into the consequences of these disasters allow a general picture of the events that occurred to be reconstructed and allow the medical consequences of the irradiation of about half a million residents to be depicted. However, due to the atmosphere of secrecy and inadequate medical procedures, the results of medical studies of radiation victims are scant. The current protocols present a unique opportunity to study the DNA damage at the nucleotide resolution level in the genome of inhabitants of the given region, who presumably received chronic doses of irradiation. Studies were conducted through the direct sequencing of genes after their PCR-amplification and preselection of allegedly mutated DNA molecules. The regions of two genes have been sequenced: D1 dopamine receptor gene (subfamily of the G-protein coupled receptor L-DOPA genes) and the intron 12 of the gene for phenylalanine hydroxylase (PAH) responsible for phenylketonuria or hyperphenylalaninemia. Six point mutations (four presumably new) were found in the D1 gene of 42 persons and five polymorphic loci (two of which are widespread and three are unique) were revealed in the PAH gene. One of two widespread mutations is a deletion, and the other four are substitutions. Mutations in the controls were not found.
authors.affiliation: Laboratory of Molecular Genetics, George Mason University, Fairfax, VA 22030, USA. vnsoyfer@mail.gmu.edu
authors.forename: Valery N
authors.initials: VN
authors.lastname: Soyfer
mesh_terms: D015894:Genome, Human; D006801:Humans; D011005:Plutonium; D011832:Radiation Injuries / Q000235:genetics* / Q000401:mortality*; D018788:Radioactive Hazard Release / Q000706:statistics & numerical data*; D014586:USSR / Q000453:epidemiology
chemical_list: D011005:Plutonium