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According to the neonatal screening conducted during the last nine years in Karachay-Cherkessia, the frequency of hyperphenylalaninemia (including PKU) was 1: 850 newborns, which significantly exceeded the average frequency of 1: 7000 in Russia. Analysis of DNA obtained from 25 patients with a diagnosis of 'hyperphenylalaninemia' (HPA) from the Karachay-Cherkess Republic was performed to search for mutations in the PAH gene. Mutations were identified on 90% of the studied chromosomes, while at least one mutation in the PAH gene was observed in all patients. The allele frequency of a major mutation R261X was 32.5%. A correlation between genotype and phenotype was confirmed in patients with HPA. [ABSTRACT FROM AUTHOR]

This paper presents analysis of 28879 marriage records from 1990-2000 (total sample). Ethnic marriage assortative mating is positive in all ethnic groups significantly represented in Karachay-Cherkessia; the lowest values are characteristic of the more numerous ethnic groups (Karachays and Russians). The rate of metisation of the urban population is 21.6%; the rate for the rural population is 16%; the values vary significantly for different ethnic groups, reaching 98% for urban Ukrainians. With this rate of gene exchange, half of the urban population becomes interbred after three generations, and half of the rural population after four. [ABSTRACT FROM AUTHOR]

A comprehensive population and medical-genetic study was carried out in ten districts and two cities in the Karachay-Cherkess Republic (Russia). As a result, 57 patients with phenylketonuria were revealed. PAH gene genotypes for 40 probands and their diseased and healthy relatives were determined. The mutation spectrum of the PAH gene in the Karachay-Cherkess Republic was investigated. The major mutation in this region is R261X with allelic frequency of 68.4%. We elaborated a convenient system for detection of six PAH gene mutations common in the Karachay-Cherkess Republic, with the total information content of the system being 89.9%. As a result of processing the clinical data, association of the diet and phenylalanine levels in the blood was verified. Genophenotypic analysis confirms the association of the residual activity of phenylalanine hydroxylase and the severity of the disease. It is shown that common mutation R261X is severe and that patients who are homozygous for this mutation have classical phenylketonuria (PKU). [ABSTRACT FROM AUTHOR]

As part of systematic research carried out by the Laboratory of Genetic Epidemiology of the Research Center for Medical Genetics, the marriage and migratory structure of the urban population of Karachay-Cherkessia was studied. Numerical estimates of the population-genetic parameters were obtained from 11346 marriage records for 1990-2000. The endogamy, ethnic assortativeness, miscegenation and local inbreeding intensities, and mean-square migration for the four cities Cherkessk, Karachayevsk, UstDzheguta, and Teberda were estimated. It is shown that the autochthonic urban population is highly miscegenated, despite the traditional preference for monoethnic marriages. Half of the Russian urban population is migrant; the autochthonic urban population is substantially formed of Karachay-Cherkessia natives of. [ABSTRACT FROM AUTHOR]

Within the framework of a complex medical population genetic study of the population of Karachay-Cherkessia, the standard population genetic characteristics for Abazins were calculated and analyzed: the endogamy index (no more than 0.60), Barrai's parameters ( I = 0.0070, ν = 0.0131, α = 143.5, H = 8.09, R = 39.65), ethnic assortativeness A (from 0.84 in the Kubina aul to 3.58 in Cherkessk), estimates of Malécot's isolation by distance parameters (σ is not more than 80 km, a is 0.001-0.003, b is around 0.01), and values of random inbreeding (0.0018). [ABSTRACT FROM AUTHOR]

This paper analyzes 2052 marriage records for 1990-2000 in the Khabezsky district of KarachayCherkessia. The main marriage and migration characteristics of Circassians are studied: index of endogamy, ethnic marriage assortivity, intensity of metisation, and Malécot's parameters of isolation by distance. [ABSTRACT FROM AUTHOR]

Background: Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagnosed with Seckel syndrome. Case presentation: Clinical exome sequencing of the proband revealed a novel homozygous single nucleotide deletion in ASPM gene, c.1386delC, resulting in preterm termination codon. Population screening reveals allele frequency to be less than 0.005. Mutations in this gene were not previously associated with Seckel syndrome. Conclusions: Our case represents an additional support for the clinical continuum between Seckel Syndrome and primary microcephaly. [ABSTRACT FROM AUTHOR]

Cystic fibrosis (CF; OMIM # 219700 ) is a common autosomal recessive disease. The spectrum and frequency of CFTR mutations vary significantly in different populations and ethnic groups. A genetic epidemiological study was conducted in the indigenous ethnic group of people known as the Karachais. They live in the Republic of Karachay-Cherkessia, which lies in the northwest of Russia's North Caucasus region. Karachai's are Turkic-speaking and consist of 194 thousand people (approximately 40% of the population of the Republic). Molecular genetic analysis was performed in 10 unrelated Karachai families with CF patients from three districts in the Republic. A high frequency of W1282X mutation was found (18 of 20 mutant alleles): eight patients were homozygous for the W1282X mutation, and two were compound heterozygous (the second alleles were R1066C and R709X). Analysis for 13 common CF mutations in the sample of 142 healthy Karachais identified two 1677delTA and two W1282X mutation carriers. Thus, the most common CFTR mutation, F508del, was not detected among the CF patients or in healthy Karachais. The most frequent mutation among Karachai patients is W1282X (90%). Its frequency in healthy Karachais is approximately 0.007. Haplotype analysis using the CFTR intragene DNA markers IVS1CA, IVS6aGATT, IVS8CA and IVS17bCA showed that the origins of the W1282X mutation in Karachay-Cherkessia and the Eastern European part of Russia are different. [ABSTRACT FROM AUTHOR]