Results of a Cytogenetic Study of Populations with Different Radiation Risks in the Semipalatinsk Region

A cytogenetic study was conducted for the first time on human populations neighboring the Semipalatinsk nuclear test site (STS) and exposed to ionizing radiation for a long period of time. In populations with the extreme and maximum radiation risks, high frequencies of radiation-induced chromosomal markers, including acentric fragments (1.99 ± 0.10 per 100 cells), dicentrics (0.23 ± 0.01), ring chromosomes (0.38 ± 0.14), and stable chromosomal aberrations (1.17 ± 0.02), were found. These frequencies significantly exceeded those in control populations. The spectrum of chromosomal aberrations and the frequencies of the aberrations of different types in persons living in the areas with the highest radionuclide contamination confirmed the mutagenic effect of radiation on chromosomes in the human populations studied.     

Analysis of Ethnogeographic Groups of Kazakhs Based on Nuclear Genome DNA Polymorphism

Eight nuclear DNA loci, including six Alu insertions (ACE, APOA1, PV92, TPA25, Ya5NBC27, and Ya5NBC148), 32-bp deletion in the CCR5 gene, and VNTR locus at the eNOS gene, were examined in three ethnogeographic groups of Kazakhs (342 individuals). The individuals examined lived in southeastern, central, and southwestern regions of Kazakhstan, and according to their tribal attribution, belonged to the Senior, Middle, and Junior Zhuzes. The Alu insertions appeared to be polymorphic in all populations examined: the insertion frequency varied from 0.264 in the populations of the Senior and Middle Zhuzes at the Ya5NBC27 and Ya5NBC148 loci, to 0.827 in Kazakhs of the Middle Zhuz at the APOA1 locus. In Kazakh groups examined only two alleles of the eNOS VNTR locus were detected with the number of repeats constituting four (A) and five (B) copies. The highest frequency of A allele was found in Kazakhs from the Junior Zhuz (0.113), while the highest frequency of B allele was detected in population of the Senior Zhuz (0.893). The frequency of the 32-bp deletion in the chemokine receptor CCR5 gene varied from 0.027 in the Junior Zhuz to 0.045 in the Senior Zhuz. Kazakhs showed high genetic diversity (H _ex = 0.376). In general, in three ethnogeographic groups of Kazakhs, the coefficient of gene differentiation (G _ST) over eight diallelic markers of nuclear genome constituted 1.1%. The differences in the Alu insertions made the highest contribution to the among-population diversity (G _ST = 1.2%).__________Translated from Genetika, Vol. 41, No. 7, 2005, pp. 973–980.Original Russian Text Copyright © 2005 by Salimova, Kutuev, Khusainova, Akhmetova, Svyatova, Berezina, Khusnutdinova.     

Polymorphism of the (CTG)n Repeat of the Myotonin Protein Kinase Gene in Populations of the Sakha Republic (Yakutia) and Central Asia

The allele frequency distribution of the (CTG)_n repeat located in the 3′-terminal region of the myotonin protein kinase gene (DMPK) was compared for populations of Yakutia (three ethnogeographic groups of Yakuts, Evenks, Evens, Yukaghirs, and Dolgans) and Central Asia (Kazakhs, Uzbeks, and Uighurs) and other ethnic groups. The populations of the two regions proved to considerably differ from each other: features characteristic of Asian Mongoloids were more distinct in the populations of Yakutia, while the Central Asian populations were closer to European populations. The (CTG)_n allele spectrum of Yakuts was considered in connection with the high incidence of myotonic dystrophy in Yakutia. The results support the hypothesis of the founder effect for the spread of myotonic dystrophy in Yakuts. Data on the (CTG)_n polymorphism were used to estimate the phylogenetic relationships of the populations under study.__________Translated from Molekulyarnaya Biologiya, Vol. 39, No. 3, 2005, pp. 385–393.Original Russian Text Copyright © 2005 by Fedorova, Khusainova, Kutuev, Sukhomyasova, Nikolaeva, Kulichkin, Akhmetova, Salimova, Svyatova, Berezina, Platonov, Khusnutdinova.     

The Frequency, Dynamics, and Structure of Congenital Malformations in Populations under Long-Term Exposure to Ionizing Radiation

Information on the dynamics, frequency, and structure of congenital malformations (CMs) and chromosomal diseases in two generations of rural populations from the Semipalatinsk region was obtained for the first time. The tests performed in the Semipalatinsk nuclear test site (STS) for many years were demonstrated to deteriorate the genetic health of the populations of the zones of extreme and maximum radiation risks. Mutagenic and teratogenic effects of long-term ionizing irradiation were detected. These were mainly expressed as an increase in the frequencies of strictly registered CMs (SR CMs), including the Down syndrome, multiple malformations (MMs) and microcephaly (1.45 ± 0.11, 1.39 ± 0.01, and 0.77 ± 0.05 per 1000 births, respectively). SR CMs exhibited linear trends toward higher frequencies in two generations of exposed persons after surface nuclear tests in 1949–1963. Their frequency was strongly correlated with the effective population dose of radiation; the main population genetic parameters (inbreeding coefficient, endogamy index, etc.) had less pronounced effects on Cms.     

Chromosomal Instability Parameters in the Population Affected by Nuclear Explosions at the Semipalatinsk Nuclear Test Site

A population genetic survey of 149 persons who were born and have permanently lived in the contaminated zones of the Semipalatinsk region has been performed. A cytogenetic study has demonstrated that the frequency of aberrant cells is 1.7–3 times higher than control parameters. The total frequencies of chromosome aberrations are 3.43 ± 0.48, 3.1 ± 0.3, 1.8 ± 0.2, and 1.15 ± 0.17 aberrations per 100 cells in the populations of the extreme radiation risk (ERR), maximum radiation risk (MaxRR), minimum radiation risk (MinRR), and control zones, respectively. The high chromosome aberration rate in all three zones of radiation risk has been detected mainly due to radiation-induced chromosome markers, including paired fragments (1.3 ± 0.2, 0.94 ± 0.13, and 0.43 ± 0.06 per 100 cells, respectively), dicentric and ring chromosomes (0.44 ± 0.04, 0.45 ± 0.07, and 0.11 ± 0.02 per 100 cells, respectively), and stable chromosome aberrations (0.74 ± 0.16, 0.8 ± 0.1, and 0.63 ± 0.13 per 100 cells, respectively). The qualitative spectra of the cytogenetic lesions observed in these groups indicate a mutagenic effect of ionizing radiation on chromosomes in the populations studied.     

Opisthorchiasis in infant remains from the medieval Zeleniy Yar burial ground of XII-XIII centuries AD

We present a paleoparasitological analysis of the medieval Zeleniy Yar burial ground of the XII-XII centuries AD located in the northern part of Western Siberia. Parasite eggs, identified as eggs of Opisthorchis felineus, were found in the samples from the pelvic area of a one year old infant buried at the site. Presence of these eggs in the soil samples from the infant’s abdomen suggests that he/she was infected with opisthorchiasis and imply consumption of undercooked fish. Ethnographic records collected among the population of the northern part of Western Siberia reveal numerous cases of feeding raw fish to their children. Zeleniy Yar case of opisthorchiasis suggests that this dietary custom has persisted from at least medieval times.     

Analysis of the Genetic Demographic Structure of Rural Populations Neighboring the Semipalatinsk Nuclear Test Site

Rural populations neighboring the Semipalatinsk nuclear test site were used as a model to develop and test an integrated population-genetic approach to analysis of the medical genetic situation and environmental conditions in the areas studied. The contributions of individual factors of population dynamics into the formation of the genetic load were also assessed. The informative values of some genetic markers were estimated. Based on these estimates, a mathematical model was constructed that makes it possible to calculate numerical scores for analysis of the genetic loads in populations differing in environmental exposure.