Low incidence of UPD in spontaneous abortions beyond the 5th gestational week.

Approximately 15-20% of all clinically recognised pregnancies abort, most commonly between 8-12 gestational weeks. While the majority of early pregnancy losses is attributed to cytogenetic abnormalities, the aetiology of approximately 40% of early abortions remains unclear. To determine additional factors causing spontaneous abortions we retrospectively searched for uniparental disomies (UPD) in 77 cytogenetically normal diploid spontaneous abortions.

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.

Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and short stature. Previous reports indicated that 4-25% of RTS patients have a submicroscopic 16p13.3 deletion of the CBP gene.

[Burden of hereditary diseases in residents of the Mari El Republic].

A summary of the medical genetic studies of the Marii El population is presented. A total of 276,900 people, 110,894 and 166,006 urban and rural inhabitants, respectively, were examined. Regarding the ethnic composition, the studied population was mostly Mari (61.

["Synthetic" maps of the Mari gene pool (from immunobiochemical polymorphism data)].

Models of geographic distribution of 33 alleles of 10 loci (AB0, TF, GC, PI, HP, AHS, F13B, ACP1, PGM1, GLO1) in the indigenous population of five raions (districts) of Marii El Republic were analyzed by cartographic statistical methods. Based on 33 maps for individual alleles, synthetic maps were constructed; they reflected the general characteristics of the spatial variability of the Mari gene pool. A map of reliability of the synthetic maps was also obtained.

[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.

[Selective structure of the gene pool. IV. Estimation from the selection intensity index Rs].

A new approach for investigating the selective structure of the gene pool reflecting the type and intensity of selection is proposed. Selection pressure is estimated on the basis of interpopulation gene diversity with the use of the selection intensity index: RS(i) = NeS(i) = 1/4(1/FST(i)-1/Fe). Distributions of RS(i) in gene pools of indigenous populations from all continents and five subregions of the northeastern Eurasia were examined.

[Genogenography of the aboriginal population of Marii El (from data on immunobiochemical polymorphism)].

The geographic distribution of the frequencies of genes related to the immunological and biochemical polymorphism was studied in the Maris, who are the indigenous population of the Marii El Republic. Data on the frequencies of 33 alleles of 10 loci (ABO, TF, GC, PI, HP, AHS, F13B, ACP1, PGM1, and GLO1) in five raions (districts) of Marii El were obtained. Computer interpolation maps were constructed for all alleles.

[Selective structure of the gene pool. III. Technology of determination from F(ST)-statistics using numerical resampling].

The selection pressure on the ith gene was determined on the basis of the heterogeneity of interpopulation diversity FST(i), assumpting that the significant deviation of FST(i) (observed differentiation of the ith gene) from Fe (selectively neutral differentiation) indicates selection. A selectively neutral variation Fe was estimated from the mean FST, averaged over the total set of genes. Since the validity of the equation FST approximately Fe = (4NeMe + 1)-1 depends on the fulfillment of conditions of the theoretical model as well as on organization of sampling of genes and subpopulations rather than on statistical parameters of the gene sample, an additional correction by boot-strapping is suggested.

[Selective structure of the gene pool. II. Standard method using F(ST) statistics].

A new approach to the description of the selective structure of the gene pool that is determined by the type and intensity of selection for individual genes is suggested. Selective pressure is defined based on the heterogeneity of the interpopulation diversity index FST. It is assumed that a significant difference between the estimated heterogeneity for the ith gene FST(i) and the selectively neutral interpopulation differentiation of the gene pool (Fe) indicate an effect of selection on the ith gene.

[Interpopulation diversity of the gene pool: beta distribution of Wright's F(ST) statistics].

The distribution of FST(i) estimates were studied in representative samples of ith genes for the gene pools of the major human populations, including the populations of Europe, Asia, Africa, Australia, America, North-eastern Eurasia, and five subregions of the latter. An average of 80 FST(i) estimates were analyzed for each sample of marker genes with a level of polymorphism (q) from 0.05 to 0.

[Computer technology for genogenographic study of the gene pool. V. Evaluation of the reliability of maps].

An important aspect of gene geography, the estimation of the reliability of interpolation maps, is considered. The introduced quantitative parameter, map reliability, was estimated as the probability of predicted character values in interpolated map regions. The obtained estimates characterize the statistic significance of the mapped values of the character.

[Meadow maris: a genetic landscape].

The distribution of the most frequent family names was analyzed in five regions of the Marii El republic, and diagrams of their genetic landscape were constructed. Based on the diagrams, conclusions were drawn regarding the genetic subdivision of the corresponding populations and the boundary between elementary populations within them.

[Computer technology of genogeographic study of the gene pool. IV. Population in the space of principal components].

On the basis of maps of principal components ("synthetic maps"), populations were arranged in the space of principal components. In terms of the applied model, nodes of a dense, uniform grid represented human populations. For each node, the frequency of a given gene was interpolated from these values for all original populations.

[Medico-genetic study of residents of Marii El republic: burden of hereditary diseases in four regions of the republic].

A medical genetic study of Orshanskii, Morkinskii, Sovetskii, and Semurskii raions (districts) of the Marii El Republic was performed. The total number of subjects examined was 115,743. Meadow Maris and Russians accounted for the most part of the populations of the districts studied.

[Selective structure of a gene pool. I. Feasibility of research].

Possibilities of studying the properties of a selective gene pool structure, a new characteristic of the population genetic structure, are described. The characteristic depends on the type of selection and its effects on individual genes. The selective structure is evaluated by estimating significant differences between the interpopulation variation of i genes (FST(i)) and the average variation of the total gene pool (FST).

Phosphatidylserine plasma membrane asymmetry in vivo: a pancellular phenomenon which alters during apoptosis.

The distribution of phospholipids across the two leaflets of the plasma membrane is important for many cellular processes including phagocytosis and hemostasis. In the present study we investigated the in vivo plasma membrane distribution of the aminophospholipid phosphatidylserine in mouse embryos with a novel technique employing Annexin V, a Ca2+ dependent phosphatidylserine binding protein, conjugated to fluorescein isothiocyanate and biotin. Annexin V directly applied to cryostat sections labeled the plasma membrane of all cells at the interface.

Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34.

Two unrelated patients with small distal deletions of the long arm of chromosome 13 are described, with shawl scrotum and penoscrotal transposition, penoscrotal hypospadias, a reduced perineum, and anal atresia. The patients have small deletions of 13(q32.2qter) and 13(q32q34), respectively.

Fragile X screening program in a Spanish region.

In a Spanish region with a population of one million, we screened 371 mentally retarded males, who had no previous diagnosis for fragile X [fra(X))] syndrome. Fifty-three of the 371 males were fra(X) positive. Of these 44 of 362 or 12.

Increasing incidence of early onset type 1 (insulin-dependent) diabetes mellitus: a study of Danish male birth cohorts.

To provide information of the incidence trends of Type 1 (insulin-dependent) diabetes mellitus we performed a cohort study of a series of Danish male birth cohorts. All male livebirths in Denmark between 1 January 1949 and 31 December 1964, were investigated regarding the development of Type 1 diabetes during the first 20 years of life using the files of the Danish Conscript Board, supplemented by a search in the Danish National Registry of Deaths. Diagnosis was verified and clinical information obtained from medical records.