Genetic load of hereditary diseases in populations of the Krasnodar Krai]

Medico-genetical study of populations living in Krasnodar district was carried out. The mean value of genetic load contributed by autosomal dominant diseases composed 0.92 +/- 0.06, this value being 0.56 +/- 0.04 for autosomal recessive and 0.36 +/- 0.05 for X-linked recessive disorders per one thousand. Comparative analysis of genetical load in urban and rural populations demonstrated that they had no differences in relation to genetical load contributed by autosomal recessive and X-linked recessive disorders. At the same time, significant differences were noted between the populations concerning genetic load contributed by autosomal-dominant disorders.     

Medico-genetical study of the Uzbekistan population. IX. Variability of hereditary pathology, territorial distribution of hereditary diseases and hereditary disease load in the population of the Urgut district of the Samarkand region

Medical-genetic study was carried out in the population of Samarkand province (the population size about 150 000). Hereditary pathology was ascertained among families with two or more affected members with chronic diseases. 110 families with 210 patients were registered. The most frequent were autosomal-recessive disorders (42 nozological forms). 15 nozological forms are probably "new" conditions in this province, because they were absent in our previous medical-genetic study of this province. A tendency to local accumulation of families with the same disorder in small populations was observed. The load of autosomal-recessive disorders comprised 2.2 X 10(-3) affected, that of autosomal-dominant disorders being 0.51 X 10(-3) and of X-linked disorders being 0.25 X 10(-3) males. The importance of assortative maitings in manifestation of rare autosomal-recessive genes in Uzbek population is discussed.     

Load of hereditary diseases in the populations of the Adyg autonomic district

Comparative analysis of the loads of hereditary diseases in two ethnically different populations coexisting in the Adyg national district was performed. The modes of inheritance of diseases studied were tested by segregational analysis. The results obtained demonstrated that the load of autosomal-recessive diseases in the populations of the Adyg national district is higher than that in Russian population, while the load of autosomal-dominant diseases is similar in two populations. This difference in the level of the loads appear to be connected with genetic structure of the populations studied. Regressional analysis of relations between loads and the level of inbreeding in the Adyg population showed the explicit interrelation between the load of autosomal-dominant diseases and the Fst correlation coefficient being 0.89.     

Spectrum and territorial distribution of hereditary diseases in the population of the Krasnodar Krai]

The analysis of the spectrum of hereditary diseases in the population of the Krasnodar province is performed and the influence of the population dynamics factors on the spectrum is discussed. More than 130 nosological forms were discovered in the population of approx. 200,000. Among these, there are 63 autosomal dominant, 49 autosomal recessive and 17 X-linked recessive forms. Of the most frequent autosomal dominant diseases (more than 1 per 50,000) autosomal recessive and X-linked recessive disorders 13, 7 and 7 forms, respectively, were picked up. The coefficient of diversity of hereditary diseases (the number of nosological forms per 10 inhabitants) with different types of inheritance is higher in the Krasnodar population, as compared with the Kostroma population. The problem of similarity of the "nucleus" of autosomal-recessive disorders in Russian populations is discussed.     

Medico-genetic study of the Uzbekistan population. X. Hereditary forms of hearing impairment in the Khorezm and Samarkand regions

Medical-genetic study in some populations of Khorezm (about 200,000) and Samarkand (about 56,000) provinces was performed with the view of identification of all family cases of deafness and deaf-mutism. 53 families with 140 affected patients were registered, in total. 8 nozological forms were found in this study, the most frequent being autosomal-recessive ones (6 nozological forms, 48 families, 122 patients). The autosomal-dominant forms were represented by 2 nozological forms (5 families with 18 patients). The reason for predominance of autosomal-recessive deafness in Uzbek population is discussed.     

Genetic demographic study of an urban sample of Turkmen-teke with behavioral abnormalities

Genetic and demographic studies of urban sample of Turkmen-teke (Ashkhabad city) were performed among probands-36 patients with diagnosis of "schizophrenia" and their 840 relatives. Clinical analysis revealed 27.8% of phenocopies. In other 26 families the genealogical analysis showed autosomal-dominant (12 families), probably, autosomal-dominant (9 families) as well as autosomal-recessive (3 families) types of inheritance of pathology, in two families the type being not established. The empiric risk of affection was determined to be 24.2% for parents, 75.5% for sibs and 33.3% for children. Mean number of children per one woman is 3.53, which is significantly lower than mean populational number (6.17). High level of endogamy of the urban sample tested is established, the total coefficient of inbreeding being 0.009856; grandparents of the probands appeared to be exclusively of rural origin. The negative action of selection (decreased fitness), preferentially monogenic type of heredity and high level of endogamy are discussed as factors providing broad hereditary heterogeneity of schizophrenia.     

Medico-genetic study of the population of Turkmenistan. I. Hereditary diseases in 5 districts of the Ashkabad region

Medico-genetic characteristics of the Ashkhabad province of Turkemenia are given. 23 nosological forms of hereditary diseases were found. The population load estimated per 1000 of autosomal-recessive (AR) diseases was 0.7, autosomal-dominant (AD) - 0.4, X-linked - 0.5. Inbreeding coefficient for the families with AR pathology was 0.03529, with AD - 0.01172. The study of territorial distribution of hereditary disease detected slightly marked local accumulation of certain forms of hereditary diseases.     

Reduced Prevalence of Malaria Infection in Children Living in Houses with Window Screening or Closed Eaves on Bioko Island,Equatorial Guinea

Background

Previous studies demonstrated that fewer mosquitoes enter houses which are screened or have closed eaves. There is little evidence about the effect on malaria infection in humans that changes in house construction may have. This study examines the impact of protective housing improvements on malaria infection on Bioko Island.

Methodology/Principal Findings

Data from the annual malaria indicator surveys between 2009 and 2012 were used to assess trends in housing characteristics and their effect on RDT confirmed malaria infection in household members. Odds ratios were adjusted for socio-economic status of the household.22726 children between the ages of 2 and 14 years were tested for P. falciparum. Prevalence of infection in those living in houses with open eaves was 23.0% compared to 18.8% for those living in houses with closed eaves (OR = 0.81, 95% CI 0.67 - 0.98). The prevalence of infection for children in screened houses was 9.1% versus 20.1% for those living in unscreened houses (OR = 0.44, 95% CI 0.27 - 0.71). The proportion of houses with closed eaves increased from 66.0% in 2009 to 74.3% in 2012 (test for trend p = 0.01). The proportion of screened houses remained unchanged over time at 1.3%.

Conclusion/Significance

As a malaria control intervention, house modification has the advantages that it is not affected by the growing threat of insecticide resistance; it protects all household members equally and at all times while indoors; and it offers protection against a number of vector borne diseases. The study provides evidence in support of efforts to regulate or encourage housing improvements which impede vector access into residences as part of an integrated vector control approach to complement existing measures which have been only partially successful in reducing malaria transmission in some parts of Bioko.     

Polymorphism of Y-chromosomal microsatellites in Russian population from Southern Federal district of the Russian Federation

Haplotype frequencies and allele distributions at 11 STR loci of the Y chromosome were evaluated in 180 unrelated individuals from Russian population of Southern Federal district of the Russian Federation (Rostov oblast, Krasnodar krai, and Stavropol krai). Among 153 Y-chromosomal haplotypes discovered, 62 were unique. In the sample of Russian population, the most frequent haplotype (frequency of 5.56%) was 16-11,14-13-30-25-11-11-13-14-11-10 (for the loci DYS19, DYS385a,b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, and DYS439, respectively). Despite the high diversity of Y-chromosomal haplotypes in the Russian populations from the south of Russia (the h value was 0.997, 0.995, and 0.994 in Rostov, Krasnodar, and Stavropol samples, respectively), analysis of molecular variance (AMOVA) showed the absence of differentiation between the populations (Φ_ST = 0.1%, P = 0.36). Comparative differentiation analysis performed for 13 Russian populations from the European part of Russia pointed to low among-population differentiation in Y-chromosomal lineages (Φ_ST = 0.52%, P = 0.03).     

Analysis of genetic distances between populations using human DNA "fingerprints" detected by a phage M13 DNA probe]

The frequencies of different electrophoretic bands in DNA fingerprints detected by phage M13 DNA probe in two populations of the Kirov district were determined. The DNA polymorphisms observed in these two populations were compared with each other and with those of the Krasnodar populations, and pseudogenetic distances were calculated. The mean genetic distance between two Kirov populations was 0.072, this between every Kirov and Krasnodar population being 0.21 and 0.22.     

Marital and migration structure and inbreeding in the Adyg population]

Endogamy and gametic indices for both Russian and Adyg populations living in the Adyg autonomous region of Krasnodar district were determined on different levels of territorial units: village, rural, community (a group of villagers) and rural region. Inbreeding coefficient was estimated for Adyg population and its structure analysed: a random component contributes mostly to the inbreeding coefficient (Fst = 0.00991), non-random component of the inbreeding coefficient being Fis = 0.010009, which testifies to negative marital assortativity among Adygs. Local inbreeding "a" and decline in the inbreeding "phi" coefficient at a distance from 0 to 500 km were calculated using the Malecot's formula: the coefficient "a" was found to be 0.00397, which is in good accordance with the Fst.     

Diversity in autosomal-dominant diseases in the Russian population

Results of 20-year studies on the diversity of autosomal dominant (AD) diseases are summarized. The studies were carried out in six regions of Russia: Kirov, Kostroma, and Bryansk oblasts; Krasnodar krai; and Adygea and Marii El republics. A total of 1.5 million subjects from 44 raions (districts) were studied. In the populations studied, 144 AD diseases were found; the total number of affected persons was 1723. The prevalence rate in the region where the disease was found and the average prevalence rate in the total population studied were calculated for each disease. Only 11 AD diseases had prevalence rates of 1:50,000 or higher. About half of AD diseases (64) had a very low prevalence rate (1:861,408). However, most cases (about 70% of the affected persons) were accounted for by more frequent diseases. Forty-six diseases exhibited local accumulation. The AD mutation rate was estimated by direct calculation. This rate was 0.542 x 10(-6) per gamete per generation.     

Genetic characteristics of the "EEC" syndrome (ectrodactyly, ectodermal dysplasis, cheilognathopalatoschisis)]

The analysis of the literature and author's observations of the "EEC" syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) revealed that this is a disorder with an autosomal-dominant type of inheritance with an incomplete penetrance and varying expressivity. Both sexes are affected with the same frequency. The complete form of the syndrome was mentioned in 27 cases only; all other patients had incomplete forms. The combination of two out of 3 main features is enough for the diagnosis of this syndrome. The most common trait of the "EEC" syndrome is ectrodactyly (73/77), clefts of lip or palate were observed in 53 patients out of 77, the ectodermal dysplasia was mentioned in 44 cases. There is an increase of mutation frequency in older parents.     

A medico-genetic description of inhabitants of two regions of the Kransnodar Krai]

The spectrum and prevalence rate of hereditary pathology in Kanevskii and Bryukhovetskii raions (districts) of Krasnodar krai (territory) were analyzed. The total size of the studied population was 145,937. The prevalence rate of monogenic hereditary pathology was estimated. This value was 1.08 +/- 0.08, 0.72 +/- 0.07, and 0.20 +/- 0.06 per 1000 people for autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL) recessive diseases, respectively. Forty-two AD (158 affected persons in 82 families), 32 AR (105 affected persons in 82 families), and 6 XL disease entities (13 affected persons in 8 families) were found. A slight genetic subdivision was found in the populations of Kanevskii and Bryukhovetskii raions. However, it was not found to affect the prevalence of hereditary pathology.     

The use of DNA from phage M13 for the analysis of interindividual polymorphism of human DNA as demonstrated by a population study in Krasnodar city

Hypervariable "minisatellite" regions detected in human genome by wild-type M13 DNA were found to have high polymorphism and somatic stability. Analysis of individual specific patterns of 34 human DNAs from Krasnodar population is presented. The observed length of fragments ranged from 2 to 6 kb. The mean frequency of a fragment in the population under study is p = 0.247 +/- 0.171, the mean number of fragments per individual being x = 9.35 +/- 1.95. The mean probability of individual identification is calculated to be 1-2.10(-6) = 0.999998.     

区县尺度下的河流生态系统健康评价——以北京房山区为例

伴随郊区城市化的快速发展,高强度人工管控对河流生态系统产生持续胁迫作用,河流生态系统健康受到严重威胁甚至损害。以北京房山区河流水系为例,于2016—2017年在区域内的31处样点进行野外调查。选取河流的水环境功能、防洪效益功能、生态效益功能和支持利用功能4方面16个具体评价指标,并通过层次分析法计算权重,构建区县尺度下的河流生态系统健康评价指标体系,并进行健康状况评价。结果表明:房山区河流的防洪效益功能与生态效益功能中"健康与亚健康"状态比例分别为58.0%与41.9%,而水环境功能与和支持利用功能中"较差与差"状态比例为71.0%与41.9%;河流生态系统健康整体水平较差,勉强满足河流生态系统一般需求。同时,房山区境内的拒马河与小清河的河流生态系统健康状态远优于大石河与永定河。河流生态基流是影响河流生态系统健康的关键因素,适当释放库区截留水量与调配区外清洁水体,已成为恢复房山区河流生态系统健康的前提与基础。     

Outbreaks of pseudotuberculosis and intestinal yersiniosis among Soviet specialists and members of their families in the Mongolian People's Republic

In summer and winter of 1986 two outbreaks of alimentary enteric diseases occurred among Soviet specialists and members of their families in Ulan Bator. These diseases were identified as Yersinia infections registered in Mongolia for the first time. In July 114 children in a kindergarten fell ill after being fed with salad prepared from vegetables and spring onions supplied from a nearby state farm. 20 Y. pseudotuberculosis cultures, serovar 1, were isolated, and in 25 persons antibodies to the isolated microorganisms were detected; altogether 32% of cases were confirmed by laboratory methods. During the December outbreak 187 persons were affected, among them 90% of children, through the consumption of imported oranges and tangerines, simultaneous infection with Y. enterocolitica, serovars 05.27 and 09, and hepatitis A virus being observed. The fact of associated infection was registered after the simultaneous detection of the markers of viral hepatitis A and Yersinia infection in 61 patients. In the kindergarten the disease produced a typical clinical picture of Far Eastern scarlatiniform fever, and in winter the abdominal forms of the disease prevailed. In cases of combined Yersinia and viral infection a specific variant of acute hepatitis developed; as regards this variant, the authors present heretofore unknown information on its epidemiology, clinical features and outcome.     

Analysis of diversity of autosomal-recessive diseases in Russian populations]

The diversity of autosomal recessive (AR) diseases was studied in six Russian regions: the Kirov, Kostroma, and Bryansk oblasts; Adygea Republic; Krasnodar krai, and Marii El Republic (in the latter region, the Mari and Russian ethnic groups were studied separately). In total, more than 1.5 million people were studied. The spectrum of the AR diseases included 101 nosological forms; the total number of the affected subjects was 942. For all diseases, the prevalence rate in the region where they were found and the mean prevalence rate in the total population studied were calculated. Only seven AR diseases had prevalence rates of 1:50,000 or higher; however, this group contained about 50% of the patients. About half of the AR diseases (66) had an extremely low prevalence rate (1:877,483). Eleven diseases exhibit local accumulation. Accumulation of some or other diseases was only observed in four out of seven populations studied (Marii El, Adygea, and the Kirov and Bryansk oblasts). To determine the cause of the local accumulation of some diseases in populations, correlation analysis of the dependence of accumulation of hereditary diseases on the genetic structure of the populations studied was performed. The accumulation coefficients for AR and autosomal dominant (AD) diseases and the mean values of random inbreeding (Fst) in individual districts were calculated for all populations studied. The coefficients of the Spearman rank correlation between the accumulation coefficient and random inbreeding (Fst) were 0.68 and 0.86 for the AD and AR diseases, respectively. The correlation between the accumulation of AD and AR diseases was 0.86. The relationships found indicate that the diversity of AD and AR diseases, as well as the genetic load, distinctly depended on the population genetic structure and were largely determined by genetic drift.     

HIV infection in children perinatally infected

During the period from 1987 to the middle of 1996 only 20 children were born of HIV-infected women, while during the following 1.5 years the number of such children were 59, the maximum number of seropositive children being registered in Kaliningrad and the Kaliningrad region, in the Krasnodar Territory, Stavropol and Nizhny Novgorod (altogether 46 children). Out of 79 children born of HIV-infected mothers during the whole period of the epidemic, 8 children died. Out of the children born before 1995 who remained alive, 9 children were struck off the register after 3 years of observation due to the absence of HIV infection. By the end of 1997 63 children were registered, the majority of them born in 1996-1997.