[Clinical and genetic analysis of juvenile parkinsonism in Russia]. / Kliniko-geneticheskii analiz iuvenil'nogo parkinsonizma v Rossii.

Clinical and genetic analysis of juvenile parkinsonism was performed in 26 sibs from 20 families. Heterogeneity of the disorder was observed. Mutations in the parkin gene (locus PARK2, chromosome 6q25.2-27), with the prevalence of deletions over point mutations, have been identified in 41%. The comparative clinical analyses of patients examined confirmed the phenotypical polymorphism of "parkinopathy". We also showed the absence of asymmetric manifestation--an important and underestimated so far sign of the disease. The results of the study may be considered as a valuable clue to the clinical diagnosis of parkin-related juvenile parkinsonism in Russian population and implemented for mutation screening and medico-genetic counseling of affected families.

[Analysis of deletion mutations in the PARK2 gene in idiopathic Parkinson's disease]. / Analiz deletsionnykh mutatsii v gene PARK2 u bol'nykh idiopaticheskoi formoi bolezni Parkinsona.

A method for analysis of deletions and duplications of individual exons and groups of exons in the parkin gene (PARK2) in both homozygous and heterozygous states has been developed. The method is based on semiquantitative polymerase chain reaction (PCR). The method has been used for analysis of the frequency of deletions in gene PARK2 in patients with idiopathic Parkinson's disease from Bashkortostan. Two unrelated patients have been found to carry a deletion of the 12th (last) exon of gene PARK2. Possibly, this deletion has caused the disease in the given patients.

[Role of missense mutation (M235T) in the angiotensinogen gene in development of cerebral ischemia]. / Izuchenie roli missens-mutatsii (M235T) gena angiotenzinogena v razvitii ishemicheskoi bolezni mozga.

Possible correlation of M/T polymorphism of angiotensinogen gene with risk of ischemic stroke and basic risk factors of cerebral pathology (levels of arterial pressure and blood cholesterol; presence of diabetes mellitus, coronary heart disease, or myocardial infarction in anamnesis; and stenosis of major cerebral arteries) was studied. It was shown that M/T polymorphic variants of angiotensinogen gene were factors determining neither clinical variant of cerebral ischemia development (acute ischemic stroke or chronic brain ischemia) nor formation of main risk factors of stroke.

[Changes in the frequency of alleles and genotypes of insertional-deletional polymorphism of the angiotensin-converting enzyme gene, dependent on age]. / Zavisimye ot vozrasta izmeneniia chastot allelei i genotipov insertsionno-deletsionnogo polimorfizma gena angiotenzin-prevrashchaiushchego fermenta.

Insertion-deletion polymorphism of the gene for the angiotensin-converting enzyme has been investigated in random samples from various age groups in the Moscow population. A statistically significant reduction in the insertion allele frequency has been found in senior age groups.

[Polymorphic markers for the angiotensinogen and angiotensin-converting enzyme in Yakuts. Lack of association with blood pressure level]. / Polimorfnye markery genov angiotenzinogena i angiotenzin-prevrashchaiushchego fermenta u iakutov. Otsutstvie assotsiatsii s urovnem krovianogo davleniia.

Allele frequency distributions of the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene and the M235T polymorphism of the angiotensinogen gene was studied in a random sample of the indigenous population of the Sakha Republic. The allelic variants of these genes did not showed an association with blood pressure in Yakuts.

[Polymorphism of the angiotensin-converting enzyme gene in patients with coronary heart disease from Moscow population]. / Analiz polimorfizma gena angiotenzinprevrashchaiushchego fermenta u bol'nykh ishemicheskoi bolezn'iu serdtsa v Moskovskoi populiatsii.

The insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene was studied in patients with coronary heart disease (CHD) and healthy individuals randomly sampled from the Moscow population. The ACE gene proved to be associated with the plasma apolipoprotein B (ApoB) content in CHD patients, but not associated with HCD development in individuals with elevated serum cholesterol and triglycerides. An association was not revealed between the alleles of the ACE gene and hypertension in CHD patients.

[Association between insertion-deletion polymorphism of the angiotensin-converting enzyme gene and development of angiopathies in patients with non-insulin dependent diabetes mellitus from the Chuvash Republic]. / Assotsiatsiia mezhdu insertsionno-deletsionnym polimorfizmom gena angiotenzin-prevrashchaiushchego fermenta i razvitiem angiopatii u bol'nykh insulin-nezavisimym sakharnym diabetom iz respubliki Chuvashiia.

Insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene was analyzed in patients with non-insulin-dependent diabetes mellitus (NIDDM) and in the control group consisting of healthy subjects. The insertion allele (I) and genotype II were found to be associated with NIDDM. The frequencies of diabetic retinopathy and nephropathy in NIDDM patients were not associated with this polymorphism. However, an association was found between the DD genotype of the ACE gene and diabetic angiopathy in lower extremities.

[Analysis of polymorphic variants of renin-angiotensin system genes in polymetabolic syndrome and non-insulin-dependent diabetes]. / Analiz polimorfnykh variantov genov renin-angiotenzinovoi sistemy pri polimetabolicheskom sindrome i insulin-nezavisimom sakharnom diabete.

Polymorphisms of the genes for angiotensin-converting enzyme (ACE) and angiotensinogen, the proteins of the renin-angiotensin system (RAS), were tested for association with the polymetabolic syndrome (PMS) and non-insulin-dependent diabetes mellitus (NIDDM) in the Moscow population. The insertional (I) allele and genotype II of the ACE gene proved to be associated with PMS. A significant difference in allele and genotype frequency distributions of the (CA)n microsatellite of the 3'-untranslated exon of the angiotensinogen gene was revealed between randomly sampled individuals and patients with PMS and IDDM from the Moscow population.

[The possible role of genetic factors in the cholesterol high density lipoprotein level in the Moscow population]. / Analiz vozmozhnoi roli geneticheskikh faktorov v opredelenii urovnia kholesterina lipoproteinov vysokoi plotnosti v moskovskoi populiatsii.

The study was aimed at clarifying the relative roles of genetic and environmental factors in determination of the blood concentration of high density lipoprotein cholesterol (HDL-C) in the Russian population. For this purpose, some polymorphic systems of the apolipoproteins B, CII, and CIII; cholesterol ether transport protein (CETP); and lecithin-cholesterol acyltransferase (LCAT) genes were compared in two groups of males living in Moscow who had high and low blood HDL-C concentrations (less than 40 and more than 50 mg/dl, respectively). No statistically significant differences were found between distributions of the allelic variants of the genes studied in males with different blood HDL-C concentrations. Thus, the given panel of proteins connected with the metabolism of blood plasma lipids has no effect on the blood HDL-C concentration in Russian males from the Moscow population.

[Analysis of the 32 bp deletion in the CCR5 chemokine receptor gene in people from Moscow, infected with HIV-1]. / Analiz deletsii 21 pn v gene retseptora khemokinov CCR5 u lits, infitsirovannykh VICh-1, iz g. Moskvy.

Chemokine receptors have recently been shown to mediate HIV-1 entry into cells. The chemokine receptor CCR5 plays a key role in this process. A 32-bp deletion within the coding region of the CCR5 gene generates a truncated nonfunctional receptor. In HIV-1-infected individuals homozygous for this mutation, disease progression is inhibited. We analyzed the frequencies of the deletion in HIV-1-infected seropositive individuals. No significant differences in allelic frequencies of the CCR5 gene between the control and general HIV-1-infected cohorts and within the latter group between the infected individuals and patients with AIDS symptoms were revealed.