[The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)]. / Struktura i raznoobrazie nasledstvennoi patologii v respublike sakha (Iakutiia).

The diversity of Mendelian hereditary pathology has been studied in Sakha Republic (Yakutia). The sample comprised 1 000 700 subjects, including 363 316 Yakuts, 14 428 Evenks, 8668 Evens, 550 263 Russians, and 64 025 subjects from other ethnic groups. Fifty-one autosomal dominant (AD) diseases, including five diseases with frequencies of 1 : 50 000 or higher; 40 autosomal recessive (AR) diseases, including eight diseases with frequencies of 1 : 50 000 or higher in the Yakut population; and five X-linked diseases have been detected.

Evaluating association and transmission of eight inflammatory genes with Viliuisk encephalomyelitis susceptibility.

Since the discovery of Viliuisk encephalomyelitis (VE) in 1887, scientists have tried to understand the natural history and aetiology of this endemic neurological disorder among the native Sakha population of Central Siberia. Familial aggregation and segregation analysis suggested a genetic influence on VE incidence. However, recent studies have implicated an unknown virus, possibly from the alpha herpesvirus family, as a possible cause for this disease. As VE is a neurological disease characterized by the inflammatory reactions systematically observed in the spinocerebellar fluid and in the brain tissue of deceased patients, we examined 17 single nucleotide polymorphisms (SNPs) across seven inflammation-related candidate gene regions, including chemokine receptors type 2 and 5 (CCR2/CCR5), interferon-gamma (IFN-gamma), interleukin-4 (IL-4), IL-6, IL-10, stromal cell-derived factor (SDF) and chemokine regulated upon activation, normal T-cell expressed and presumably secreted (RANTES). Our main objective was to analyse the degree of genetic association between VE and candidate genes that have been previously implicated in other inflammatory diseases. Samples were collected from 83 affected families comprising 88 verified VE cases, 156 family members, and an additional 69 unrelated, unaffected inhabitants of the same geographical area. This collection included substantially all of the cases that are currently on the VE Registry. The experimental design included both case-control and transmission/disequilibrium test (TDT)-based familial association analyses. None of 17 SNPs analysed was significantly associated with VE occurrence. Exclusion of these eight genes based on the lack of association has important implications for identifying the disease agent, as well as prescribing therapy and understanding Viliuisk encephalomyelitis.

[Burden of hereditary diseases in residents of the Sakh republic (Iakutiia)]. / Gruz nasledstvennykh boleznei u naseleniia respubliki Sakha (Iakutiia).

Summarized data of medical genetic survey of the population of Republic of Sakha (Yakutia) are presented. The number of the population examined constituted 1000700 individuals (including 424500000 of urban and 576,200 of rural population, respectively). Regarding the ethnicity, 33 regions of the Republic examined were at most inhabited by Yakuts (36%) and Russians (55%). A total of 400 families (606 patients) with autosomal dominant, 274 families (369 patients) with autosomal recessive, and 42 families (53 patients) with X-linked pathologies were detected. The segregation analysis performed showed good correlation with the expected type of inheritance for both dominant and recessive diseases. The prevalence rate of monogenic hereditary diseases for rural and urban populations, as well as for solely Yakuts, was calculated. It was shown that weighted average prevalence of dominant (0.68; 1.44) and recessive (0.43; 0.86) disorders in Yakuts was two times higher than in total population examined.

A tunable single-mode 3.2 microm laser based on an InAsSb/InAsSbP double heterostructure with drive-current tuning range of 10 cm(-1).

A new type of semi-conductor laser with composition InAsSb/InAsSbP is described. This laser was produced for the absorption spectroscopy of atmospherically important molecules in the 3100 cm(-1) region and tested using a closed-cycle He-cryostat in the temperature range 30-80 K. The optimal characteristics of the laser were found to be a heatsink temperature of 62 K and a drive current range of 50-350 mA. Under these conditions, the laser emits single-mode radiation in an exceptionally large wavenumber range of > 10 cm(-1). To test the laser, several experiments were carried out in which the rovibrational absorption spectra of CH3Cl, NH3, OCS and H2O were measured.