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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.

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.

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 the IIgenotypeof 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.

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.

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.

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.