title: [Analysis of mutations in ATP7B gene and experience with direct DNA-diagnosis in hepato-lenticular degeneration].
abstract: Hepatolenticular degeneration (HLD) is a severe autosomal-recessive disorder of the copper metabolism. It is characterized by excessive accumulation of copper in the brain and in viscera and is conditioned by the damage in the gene of copper ATP-ase (ATP7B). The paper presents the results of screening of ATP7B gene mutation in 42 patients with HLD from Russian population. The regions of ATP7B gene that are the most frequently exposed to the mutation have been studied (the exzones 14, 15, 16, 18). It is demonstrated that A-->C mutation in the 14-th exzone that led to the change of histidine1069 amino acid for glutamine, was found in more than 60% of patients--Slavs from the European Russia. This mutation was observed in both homo- and heterozygous states. The deletion of (CCC-->CC) nucleotide in the 15-th exzone of the gene was observed in 2 cases. The detailed analysis of the clinical-genetic correlations was performed in patients with the determined damages of ATP7B gene. In Russia the experience of the direct DNA-diagnosis of HLD is described for the first time. It is significant for early evaluation of the patients in preclinical state and for prescription of the preventive copper-eliminating therapy.
authors.forename: A V
authors.initials: AV
authors.lastname: Karabanov
authors.forename: I V
authors.initials: IV
authors.lastname: Ovchinnikov
authors.forename: S N
authors.initials: SN
authors.lastname: Illarioshkin
authors.forename: V V
authors.initials: VV
authors.lastname: Poleshchuk
authors.forename: P A
authors.initials: PA
authors.lastname: Slominskiĭ
authors.forename: E D
authors.initials: ED
authors.lastname: Markova
authors.forename: O Iu
authors.initials: OIu
authors.lastname: Rebrova
authors.forename: S A
authors.initials: SA
authors.lastname: Limborskaia
authors.forename: I A
authors.initials: IA
authors.lastname: Ivanova-Smolenskaia
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D002391:Catchment Area, Health; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006527:Hepatolenticular Degeneration / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012426:Russia / Q000453:epidemiology
chemical_list: D000251:Adenosine Triphosphatases