Medico-genetic study of isolates in Uzbekistan. IV. Clinico-biochemical diagnosis of hereditary diseases]

An exhaustive clinico-biochemical examination of the population of two kishlaks of the Samarkand Region, viz. Karakent (210 persons) and Ishan (248 persons) was carried out. The program of this examination permitted to exclude over 160 forms of hereditary pathology. A total of 45 persons affected with diseases belonging to 12 nosological forms were revealed in the course of the examination. Among the diseases observed only 5 are hereditary sensu stricto, viz. myoclonus-epilepsy, Bonevi-Ulrich's syndrome, imperfect osteogenesis, pigment choreoretinite and Down's syndrome, others belong to diseases with a pronounced hereditary predisposition. The main part of this group comprises neuro-psychic diseases, such as non-differentiated olygophreny (5.0%), epilepsy (1.3%), schizophreny; many of these cases have a familial character, particularly in Karakent. Besides the persons suffering from diseases, 20 heterozygous carriers of beta-thalassemia and 17 heterozygous carriers of G6PD-deficiency were discovered in the kishlaks examined. On the whole the frequency of the diseases revealed did not exceed the level in the general population. Despite the different degree of isolation of the kishlaks examined (Karakent is isolated on a religious basis, F = 0.0064; while Ishan is a desintagrated isolate, F = = 0.0014), no substantial differences between them in the distribution of pathological phenomena were observed. On the basis of the experience of this expedition recomendations are proposed concerning the origination and accomplishment of medico-genetic expeditions. A scheme is proposed for the performance of medico-genetic examination through several stages. The first stage in the composition of tentative maps of the distribution of hereditary diseases within a region on the basis of the information obtained from the medical personnel and from the examination of the documents of district and regional hospitals. Subsequently the primary information is specified, the regions to be examined are determined, as well as concrete tasks and the staff of the expedition. The conclusive stage is the medico-genetic examination proper, including clinical, biochemical, immunological and cytogenetic diagnoses of hereditary pathological phenomena. The place of the disposition is a village or a district hospital. More complicated laboratory studies should be performed on the basis of the institution by which the expedition is formed. The results obtained by such expeditions would be important for the investigation of the problems of genogeography, for the discovery of new forms of mutant alleles, for the investigation of the causes and the conditions of the formation of the definite populational structure, of clinical polymorphism of human hereditary diseases.     

Medicogenetic study of isolates in Uzbekistan. II. Anthropogenetic characteristics, blood groups and serum proteins]

A study is carried out on the distribution of ABO, MN, Rh, P and Le blood groups systems, haptoglobins, and common anthropogenetic features in the population of two villages of the Samarkand district. The examined samples have appeared to be heterogenous for ABO, Rh and P systems. For MN and Le unification is possible. The summary data on the allotment of phenotypes are as follows: (%) 0-30.2, A-35.3, B-26.2, AB-8.3, M-33.9, N-26.2, MN-39.9, Rh- -1.5, P-78.6, Le(a-b+)-33, Le (a+b-)-22.2, Le(a-b-)-34.2, Le(a+b+)-10.6. Gene frequencies have are calculated. The occurrence with regards to haptoglobins in both the villages is the same. The summary data are as follows: Hp1=1-4.8, Hp1=2-36.2, Hp2=2-59%. Gene frequencies have been calculated. In the population of the village Karakent there is a change of the frequency in many features of dermatoglyphics. The frequencies of anthropogenetic features do not differ between the villages. The summary data are the following: the frequency of theelbow type of hand is 86.9%, the right type of "hand clasping"-55.0%, the right type of "arm folding"-50.4%, righthandedness-99.7%. The occurence of square lobe of the ear is 21%, spliced one is 26.2%, the hanging down is 52.7%. The frequency of the gene insensitivity for PTC taste is 0.47 in one village and 0.53 in the other.     

Medicogenetic study of isolates in Uzbekistan. I. Statement of the problem and characteristics of the groups studied]

The paper comprises results of studying some demographic and populaton characteristics of the inhabitans of the Samarkand region as a whole and two villages, Karakent and Ishan, inhabited with Uzbeks-Khoja, a special religious-social caste in the past. It is shown that 87.4% of marriages in the Samarkand region are of international character (the information has been obtained on 7995 married couples). The frequency of consanguineous marriages is 11.6%, and among them 40.5% are first-cousin marriages and 39.1% are marriages of remote relatives. The coefficients of inbreeding are rather high among the Jewish, Tajik and Uzbek communities. The coefficient of inbreeding as a whole is F=0.0042 in this region and approaches to the maximal level, characterizing a panmix population. The average size of a family in the villages of Karakent and Ishan is approximately 4.0 persons. The values of reproductive performance, the nature of termination of pregnancies do not differ from those of panmix population. The percentage of intravillage and consanguineous marriages are 56% and 12.5% for the first village, and 25% and 2% for the second one respectively. The coefficient of inbreeding for karakent is F=0.0064, for Ishan--F=0.0014. Taking into consideration the historical development of the two villages and the cumulative data, the conclusion is drawn that Karakent is an isolate on a religious ground whereas Ishan is a disintegrated isolate.     

A medico-genetic study of the population of Western Pamir. VI. Local genetic differentiation in the populations of Western Pamir]

The article comprises the results on the analysis of the structure of the great Pamirs' population (of a higher rank) and of one of its parts, the subpopulation of the valley of the river Bartang. Wright's F coefficient was used for the statistical treatment of the data obtained in the course of the analysis. The FST estimates were obtained from the variances of the frequencies of the genes located in 5 loci (ABO, MN, P, Rh and P.T.C.) culculated for 23 samples of the great populations of the Pamirs and for 9 samples of the population of the Bartang river valley. The general inbreeding coefficient for the Pamirs FIT=0,0323, its random component FST=0,0017 and the non-random component FIS=0.0306.     

Results of cytogenetic examinations in 255 married couples with a history of infertility]

The results of cytogenetic examination carried out in 255 couples with a history of infertility have been analysed. Chromosomal aberrations have been detected in 15 examinations (6.7%) with predominance of translocations (mutual - 3.6%; Robertson' - 1.3%). Identified aberrations have been noted in 9 women and 6 men. The obtained results have been analysed in relation to the number of abortions, dead and live newborn babies with inherited abnormalities. It was found that the incidence of chromosomal aberrations increases with the number of the spontaneous abortions in anamnesis. Such aberrations have also been more frequent in the families in which spontaneous abortions have been accompanied by other fertility disorders.     

A comparative study of the cytogenetic effect of a series of phosphoorganic pesticides]

A comparative study of the effect of 12 organophosphorus pesticides on mice was carried out. A statistically significant increase of the frequency of aberrant metaphases in bone-marrow cells of mice was induced by dipterex, metaphos, phosphamidon and imidan. No correlation between the toxicity and the mutagenic activity of the compounds studied was observed. The pesticides studied can be regarded as substances with a slight cytogenetic activity with respect to animals.     

Complex medico-genetic study of the population of western Siberia. III. Distribution of phenotypes and gene frequencies in the northern Khanty population

Distribution of phenotypes and gene frequencies for 5 polymorphic loci as well as frequencies of incidence of some anthroposcopic parameters in five subpopulations of the North Khanty population is presented. A comparative analysis was performed for the traits studied among the people of Finno-Ugric group and of North Asia. Wahlund's variance values point to significant subdivision of the population in question. Disruption of the Hardy-Weinberg equilibrium for haptoglobin locus was observed in two subpopulations. Estimates of inbreeding coefficients obtained by different ways (from gene frequencies, genealogy and isonymy) are compared.     

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.     

A cytogenetic study of repeated spontaneous abortions.

During a cytogenetic study of spontaneous abortions, successive abortions from 40 couples were karyotyped. The chromosome constitutions of the first and second abortions were found to be highly correlated. In each of 21 instances in which the first abortion was chromosomally normal, the subsequent abortion(s) was normal as well. In nine cases, the two abortions were chromosomally abnormal, and in four of these, both abortions were trisomic. Combined with findings from other studies of consecutive spontaneous abortions, the present data indicate that certain couples are at an increased risk for either repeated chromosomally normal abortions or for repeated trisomic conceptions. The increased risk of trisomy does not seem to be restricted to a particular chromosome, and the magnitude of the risk increase appears to be independent of maternal age.     

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.     

A complex medico-genetic study of West Siberian populations. I. Formulation of a problem. Goals and objectives of the study. Population genetic characteristics of Northern Khanty

Purposes and tasks of the complex medical and genetic study of West-Siberian inhabitants were formulated. Demographic parameters for the North Khanty inhabitants, such as size, dynamics of the tertiary sex ratio, marriage structure and migration processes were presented. Mating and intrapopulation migration patterns are determined by spatial subdivision, because of the vast territory and the traditional way of life, and by isolation by distance. Index of the isolocal endogamy equals to 0.364. The portion of mixed marriages is 22.7% and that of the gametic contribution of immigrants - 7.3%. Inbreeding coefficient by isonymy is 0.00097. Effective population size of the five subpopulations studied as a whole is 25% of their total number.     

Medico-genetic study of the population of Uzbekistan. I. Incidence and variety of hereditary pathology]

In district of the Samarkand province the screening for families burdened with multiple cases of non-infectious diseases was performed. The principles of the applied screening procedure are described in the present paper. In the course of clinical examination 98 families were detected, 55 of which included more than one person suffering presumably with Mendelian diseases and 43--with multifactorial disorders. Over 30 nosological forms were found, among which orthopaedic and neurological forms were the most frequent. As a rule, identical cases were detected in one or two families. The role of certain genetic processes in the distribution of hereditary diseases in the Uzbek population is discussed.     

A medico-genetic study of the population of Western Pamir. IV, Several hereditary neuropsychiatric diseases among the population of the Bartang canyon]

On the basis of clinico-genealogical investigation of the population of some small villages in the ravine Bartang--the isolate in high-montane region--the following indices of frequency of some psychiatric disorders were determined: olygophrenia--3,96; epilepsy--5,09; schizophrenia--6,78 for a 1000 of population. These indices do not differ significantly from those for other regions of the USSR. The favourable evolution of epilepsy and schizophrenia and the absence of genetic froms of olygophrenia were marked.     

Complex medico-genetic study of the Western Siberian population. II. Population-genetic study of fluorescent chromosome polymorphism in Northern Khanty

Polymorphisms of fluorescent variants of 469 human karyotypes from five subpopulations of the Northern Khanty were studied. Significant frequency variability of Q-polymorphic variants of chromosomes was shown. Wahlund's variance for 12 chromosome polymorphic segments was 0.0121, while the total inbreeding coefficient was 0.0069 with a negative nonrandom component. Heterozygosity estimated for chromosome fluorescent polymorphism (0.189) agrees well with that for blood group systems and less for enzymes. The frequencies of Q-polymorphic variants corresponded to Hardy-Weinberg equilibrium, except for chromosome 13 which gave the significant excess of heterozygotes. Possible explanations of this phenomenon are discussed.     

A cytogenetic study of recurrent abortion

Summary Chromosomal analysis was performed in a series of 27 women with repeated spontaneous abortions and in 16 of the husbands. In one woman a balanced translocation of the type 13q/15q was detected, and a pericentric inversion of a chromosome A₁ was found in the husband of another proband. The significance of these findings is discussed.

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Zusammenfassung Bei 27 Frauen mit wiederholten Aborten und bei 16 zugehörigen Ehemännern wurden Chromosomenanalysen durchgeführt. Bei einer Probandin fand sich eine balancierte Translokation 13q/15q, bei dem Ehemann einer anderen Probandin eine perizentrische Inversion eines Chromosoms A₁. Die Bedeutung der Befunde wird diskutiert.

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The study was supported by the Deutsche Forschungsgemeinschaft, Sonderforschungsbereich 35.     

Comparative cytogenetic study of 7 types of mammary cancer]

Cytogenetic analysis of 58 cells originating in 7 mammary carcinomas indicated the existence of characteristic numerical and structural modifications, concerning the long arm of chromosome 1, chromosomes 4, 5, 7, 14, 15 and X, and the short arm of chromosome 16. Establishing the alterations of chromosomal "markers" could not only depend on selective phenomena relating to modifications of the genome but also on the preferential reassociations of heterochromatic segments.