Variability of anthropometric traits at birth in healthy children and children suffering from acute respiratory diseases in the first year of life

Variation of 5 anthropometric traits at birth in groups of normal children who had suffered from acute respiratory diseases during their first year of life was studied in Russian migrant and native population inhabiting the Western area of Baikal-Amur Railway. It was shown that affected children from migrant and native population had lower average values of all traits, as compared with normal children. In order to reduce the number of variable, the principal component analysis was applied. Stronger similarity was found between groups of normal children from native and migrant populations than between normal children and affected children from one population. This can be the evidence of the formation of similar adaptive norm for children from both Russian populations.     

Comparative study of the variability of morpho-physiological traits and polymorphic genetic markers in migrant and local Russian population of the Western region of the Baikal-Amur railway

Morpho-physiological traits and variation of gene markers of 119 complete families from Russian migrant population inhabiting the Western area of Baikal-Amur Railway and 92 such families from Russian native population from the same area were compared. In migrant women body length was 2 cm higher and age of menarche was 8 months earlier than in native population. Average values of 5 anthropometric measurements of newborns in migrant population were higher than in native population. No significant differences in gene frequencies of 9 blood groups and proteins between these groups were found. Marked deficiency of observed heterozygosity (11%) was found in native population as consequence of the genetical drift.     

Role of genetic factors in the epidemic process in respiratory viral infections

Observations carried out during 1973-1979 indicate that persons, who are frequently ill, determine the incidence of influenza and acute respiratory diseases among various groups of adult population at all epidemic periods. In constantly observed groups of different ages such persons were the source of 60-85% of the outbreaks of acute respiratory diseases. The correlation between genotypic blood markers (the ABO and HLA systems) and susceptibility to respiratory viruses has been established.     

Materials for studying the gene pools of Russia and neighboring countries: the Russian population of the Pskov region

The distributions of the genes and haplotypes for blood groups ABO, MN, Rhesus, P1, Lewis, and Kell-Cell-ano and biochemical markers of the genes of loci HP, GC, C'3, Tf, 6PGD, GLO1, ESD, ACP1, and PGM1 (including subtypes) were studied in 116 Russian subjects born in the Pskov oblast. Differences of this group from other Russian populations with respect to genetic structure were found.     

Population genetics in the province of Ferrara. I. Genetic distances and geographic distances.

The ABO and Rh systems of the population in 26 residential units in the province of Ferrara were studied to detect the effect of genetic drift on the differentiation of gene frequencies. Results obtained from principal components analysis and dendrograms were similar. A significant correlation between genetic and geographic distance was found. It was therefore hypothesized that in the area of Ferrara children born to parents originating from different communes were heterozygous at more loci than children born to parents originating from the same commune. It was also thought that it may be possible to use geographic distance between birthplaces of parents as an indicator of hybridity in their children.     

The gene pool of Belgorod oblast population: the distribution of immunological and biochemical gene markers

The frequencies of 33 alleles of 12 loci of immunological and biochemical gene markers (ABO, RH, HP, GC, TF, PI, C'3, ACP1, GLO1, PGM1, ESD, and 6-PGD) have been estimated in the indigenous Russian and Ukrainian populations of Belgorod oblast. Differences of the Belgorod population from other populations of Russia with respect to the genetic structure have been determined. It has been found that the frequency distributions of all alleles studied in the Belgorod population are similar to those typical of the genetic structure of Caucasoid populations.     

A parental combination analysis for ABO-HP interaction in a Bengali population

Blood samples from 577 couples and their 657 offspring of Bengali caste group derivation were used to study interactions between ABO blood groups and haptoglobin (HP) systems. There was no significant sex difference in HP distribution among the parents. Significantly higher incidences of HP^*1 allele were noted in the offspring of ABO-incompatible parental combinations in comparison with those in the offspring of ABO-compatible parents.     

Interaction between ABO and haptoglobin systems in a Bengalee population.

Blood samples from 2,232 individuals of a Bengalee Caste Hindu population were investigated in an attempt to confirm the association between the ABO and haptoglobin (HP) systems previously found in populations of European origin. Indians differ from Europeans in having lower HP*1 and higher ABO*B frequencies. In spite of this, as in previous studies, a weak HP/ABO association was found with a significantly lower HP*1 allele frequency in blood group O versus other ABO groups.     

ABO hemolytic disease of the newborn as a selection mechanism at the ABO locus

Data from the period 1951 to 1967 were collected from the records at the Milwaukee Blood Center on 380 cases of ABO hemolytic disease to determine if ABO incompatibility may be regarded as a selection mechanism at the ABO locus. In comparison with infants of ABO compatible parents the affected infants had significantly lower hemoglobin and hematocrit values and higher bilirubin concentrations. Forty-eight percent of the affected showed a positive direct antiglobulin test, 81% showed increased numbers of reticulocytes and 92% had spherocytosis. Since affected infants are considered to be in grave danger when high concentrations of bilirubin are present it is significant that 169 individuals (44%) required exchange transfusions. Compared with the number of live births in Milwaukee for the same period this represents a frequency of one in every 1,654 live births so that ABO incompatibility may be regarded as an important mechanism of natural selection. Since it was found that 98.7% of the mothers of the affected infants are of blood group O, the affected infants are therefore heterozygous (AO or BO) and selection due to ABO incompatibility would have its greatest effect upon the lowest allele frequencies in a population.     

Transnational families and the subjective well-being of migrant parents: Angolan and Nigerian parents in the Netherlands

Studies on transnational families argue that the subjective well-being of migrant parents is negatively affected by living separated from their children. Most studies employ qualitative methods without a control group and hence are not able to distinguish whether the effects found are associated with separation only or with other factors. This paper investigates the association between parental subjective well-being and parent–child separation by comparing migrant parents who have at least one child in their country of origin with those who live with all their children in the Netherlands. The paper further investigates whether the same associations are found between migrant groups from Angola and Nigeria. Results indicate that transnational parents indeed report lower subjective well-being, as measured by happiness, life satisfaction and mental health for both groups and additionally, self-assessed health for Angolans. However, legal status, socio-economic status and the quality of the parent–child relationship are found to be important mediators.     

Acuity of selective mechanisms operating on ABO, Rh, and MN blood groups

Selection in ABO, Rh, and MN blood groups was studied in 216 matings and their children in an endogamous population. Incompatibility status with respect to these three systems was considered simultaneously. There is no effect of incompatibility on number of pregnancies. Analysis of variance between groups confirms that prenatal loss is associated with incompatibility, and it is greater when the matings are incompatible for any two systems. There is no significant intergenerational change in ABO and Rh polymorphisms. Segregation analysis for the ABO system suggests that there is no significant difference in the proportion of A, B, and O children, based on the compatibility of the parents, while analysis for Rh-D system showed a segregation distortion which is not related to the known antigenic specificities (mother-child incompatibility).     

Detecting linkage for genetically heterogeneous diseases and detecting heterogeneity with linkage data.

Interest in searching for genetic linkage between diseases and marker loci has been greatly increased by the recent introduction of DNA polymorphisms. However, even for the most well-behaved Mendelian disorders, those with clear-cut mode of inheritance, complete penetrance, and no phenocopies, genetic heterogeneity may exist; that is, in the population there may be more than one locus that can determine the disease, and these loci may not be linked. In such cases, two questions arise: (1) What sample size is necessary to detect linkage for a genetically heterogeneous disease? (2) What sample size is necessary to detect heterogeneity given linkage between a disease and a marker locus? We have answered these questions for the most important types of matings under specified conditions: linkage phase known or unknown, number of alleles involved in the cross at the marker locus, and different numbers of affected and unaffected children. In general, the presence of heterogeneity increases the recombination value at which lod scores peak, by an amount that increases with the degree of heterogeneity. There is a corresponding increase in the number of families necessary to establish linkage. For the specific case of backcrosses between disease and marker loci with two alleles, linkage can be detected at recombination fractions up to 20% with reasonable numbers of families, even if only half the families carry the disease locus linked to the marker. The task is easier if more than two informative children are available or if phase is known. For recessive diseases, highly polymorphic markers with four different alleles in the parents greatly reduce the number of families required.     

Maternal factors in the origin of isolated oesophageal atresia: A population‐based case–control study

Background: In most patients affected by isolated oesophageal atresia (IOA) the etiology is largely unknown. Thus, the aim of this study was to analyze potential risk factors in mothers. Methods: The study samples included 221 cases with IOA, 356 matched and 38,151 population controls without any defect in the population‐based dataset of the Hungarian Case–Control Surveillance of Congenital Abnormalities, 1980 to 1996. Only those exposures were evaluated that were medically recorded in prenatal maternity logbooks during the critical period of IOA. Results: The findings of this case–control study suggested that the mothers of cases with IOA had a higher proportion of first delivery and lower socioeconomic status. Acute respiratory diseases (odds ratio [OR] 95% confidence interval [CI], 3.8, 1.8–8.1) and essential hypertension treated with nifedipine (OR 95% CI, 3.8, 1.7–8.7) in the mothers of cases associated with a higher risk for IOA in their children. Conclusion: First delivery, lower socioeconomic status, acute respiratory diseases and essential hypertension treated with nifedipine in the mothers may associate with a higher risk for IOA in their children. Birth Defects Research (Part A) 103:804–813, 2015. © 2015 Wiley Periodicals, Inc.     

Variability of polymorphic gene markers in Buryat and Russian newborns from Ulan-Ude]

Variability of ten polymorphic loci (ABO, RhD, PGD, ACP, PGM1, GLO, ESD, ADA, GC, TF) was studied in 326 Buryat and 310 Russian newborns from Ulan-Ude city. Marked differences between two groups were observed in the distributions of allelic frequencies of ABO, RhD, PGD, ACP, PGM1, GLO, ESD, GC loci. Genetic similarities between Buryat and other mongoloids were estimated. Close similarity was observed between Buryat, Mongols, Yakut and Kyzyl.     

Phenotypical features of a heterogeneous group of frequently ill children

The most high morbidity in a group of frequent ailing with acute respiratory diseases was peculiar to the children with phenotype B RH+, with haptoglobin N 1-1, to nonsecretors of antigens ABO'(H) and to individuals, who were born from heterospecific pregnancy on antigens ABO(H) and Rhesus.     

Social selection in human populations: fitness modification of offspring by an affected parent at two loci.

The effect of social reaction to a disease at one locus (the B locus) on the frequencies of deleterious genes at that locus and another locus (the A locus) has been studied. Social reaction is formulated so that affected parents at the B locus reduce or increase their offsprings' fitnesses. It has been shown that the genotype frequencies at the two loci depend strongly on the social reaction, but, because the magnitude of linkage disequilibrium is very small, the gene frequency at each locus can be treated as if each locus were segregating independently. Consequently, the model can be extended so that many rare diseases can be considered simultaneously.     

Parental quality of life in the framework of paediatric chronic gastrointestinal disease

Chronic gastrointestinal diseases, such as inflammatory bowel disease (IBD) and celiac disease (CD), might have impact not only on the affected child but also on their parents since inside the family framework, a change in each member may have influence on the whole system. The aim of this study was to test the hypothesis that parents whose children have IBD or CD will have a lower quality of life (QoL) compared to parents of healthy children, as well as that lower QoL will be found among parents who perceive lower health related quality of life (HRQOL) of their child. 55 parents of children with IBD, 49 of CD and 53 parents of healthy children were included in the study. Children were aged 7-18 years. In order to measure parental QoL, a Croatian version of the WHOQOL-BREF questionnaire was administered, with four domains: physical health, psychological health, social relationship and environment. The Total QoL was calculated as a sum of all domain items. The parent-proxy report of children's HRQOL, PedsQL 4.0 Generic Core Scales was used. Main result shows that parents of children with IBD report a significantly lower psychological health, compared to parents of other children, and significantly lower physical health compared to parents of healthy children. Among parents of children with CD and parents of healthy children, better parental Total QoL was significantly correlated with better parental report of children's HRQOL, while for parents of children with IBD those associations were not found. Results of study show association between presence of the disease in offspring with poorer parental QoL, thus highlight the importance of supporting not only children with chronic disease but also involving their parents in psychosocial interventions, as well as supporting the patient's association groups which gather both children with chronic disease and their parents.     

Genetic and immunologic aspects of type 1 diabetes mellitus

Prediction of type 1 diabetes mellitus (IDDM) and its identification in preclinical period is one of the central problems in modern medicine. They are based comprehensive genetic, immunologic and metabolic evaluations. We observed four hundred seven first-degree relatives of patients with IDDM (240 families in which one of the children or one of the parents had IDDM) have been included in the study. The study of HLA-DQA1, HLA-DQB1 polymorphic alleles and DRB1 genes and their combinations. The genetic study included searching HLA loci (HLA-DQA1, HLA-DQB1 polymorphic alleles and DRB1 genes) loci. To evaluate the genetic risk two approaches we used: first--carrying predisposing HLA-DQ alleles and DRB1-genes and it's combination (mainly associated in Russian population was DRB1*04-DQB1*0302, DRB1*04-DQA1*0301, DQA1*0301-DQB1*0302, DQA1*0301-DQB1*0302 and four susceptible alleles in A- and B- chains (Asp 57-, Arg 52+)) and second--IBD (identity by descent), in Russian population HLA-identical for 2 haplotypes sibs had risk of development of IDDM of 18%, for 1 haplotype--3%, for 0 haplotype-0.9%. The antibodies (ICA, IAA) prevalence rate has not depended on availability of predisposing HLA-DQ alleles and DRB1-genes and haploidentity of normal sibs and sibs with IDDM. However, GADA prevalence rate in groups having high predisposed alleles has been noticed as significantly higher (28.6%) comparing with 7.7% in groups that had no predisposing alleles (p < 0.05). The comparison of antibodies prevalence rate to sibs HLA-identity has shown the significant increase or GADA prevalence rate in group of siblings identical for one haplotype comparing with non-identical sibs (27.3% and 0% respectively, p < 0.001).     

Population genetics of polymorphisms in Cardiff newborn. Relationship between blood group and allozyme heterozygosity and birth weight

A newborn population of Cardiff, Wales, was screened for variation at three blood group loci (ABO, Rhesus and MN) and four enzyme loci (ACP-1, PGM-1, ADA and EST-D). Birth weights were measured. There were no significant differences between mean birth weights or birth weight variances for individuals homozygous or heterozygous at the MN and the four enzyme loci. (ABO and Rhesus loci cannot be used in these tests.) There was no significant heterogeneity in contingency tables relating phenotypes at the seven loci to birth weight. There were no significant differences in mean heterozygosity per locus between babies placed in different birth weight categories, ranging from 2.5 to 4.2 kg. The genetic variation screened appears therefore to be neutral with respect to this character.     

The dagestan gene pool: Analysis of the frequencies of classical genetic markers in Avars

This study is part of long-term research in the gene pool of Dagestan ethnic groups. The phenotype (in percent), gene, and haplotype frequencies in three Avar populations are reported. A total of 37 alleles of 13 loci of immune and biochemical genetic marker systems (ABO, Rhesus, P, Lewis, HP, GC, C′3, TF, 6PGD, GLO1, ESD, ACP, and PGM1) have been studied. Rare haplotypes of the Rhesus system (CDE, Cde and cdE) have been found in the populations studied. In two out of three local populations (Khunzakh and Kharakhi), a typically “Caucasoid” rare gene ACP1 ^c of the AcP1 locus has proved to be relatively frequent (0.030 and 0.023, respectively). The frequencies of the allele variantsP ² , le, and Hp ¹ of loci of the P, Lewis, and HP systems, respectively, have been found to be lower than in other Caucasian ethnic groups and the total northern Eurasian population. The mean allele frequencies for the GC, C′3, TF, 6PGD, GLO1, and ESD systems in the populations studied are comparable wit those for both Caucasian ethnic groups and the total population of the European historical ethnographic province. Statistical analysis of the results has shown 11 cases of significant deviations of the observed phenotype frequencies from the Hardy-Weinberg equilibrium.