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At least 829 records · Page 46Linked to original sources
PubMed1978

[Medico-genetic study of the population of Uzbekistan. IV. Medico-genetic description of the population of 4 villages of the Urgut district of the Samarkand region].

The data about the incidence of hereditary diseases and those with genetic predispositions which received after subtotal medico-genetical examination of the inhabitants of 4 villages in the Urgut district of the Samarkand province are presented. 848 inhabitants (348 adults and 464 children aged 7--16 years) are examined. The nosological profile of the morbidity and spectrum of the Mendelian diseases in the population is evaluated. The integrative estimate of load of the detrimental (non-lethal) genes is about 0.166 per individual.

Adult↗
PubMed2004

[From genetics of intraspecific differences to genetics of intraspecific similarity].

Based on the Mendelian approach to heredity, modern genetics describes inheritance of characters belonging to the category of intraspecific difference. The other large category of characters, intraspecific similarity, stays out of investigation. In this review, the genome part responsible for intraspecific similarity is considered as invariant and regulatory. An approach to studying the invariant part of the Drosophila melanogaster genome is formulated and the results of examining this genome part are presented. The expression of mutations at genes in the invariant genome part is different from that of Mendelian genes. We conclude that these genes are present in the genome in multiple copies and they are functionally haploid in the diploid genome. Severe abnormalities of development appearing in the progeny of mutant parents suggest that the mutant genes are genes regulating ontogeny. A hypothesis on an elementary ontogenetic event is advanced and the general scheme of ontogeny is presented. A concept on two types of gene allelism (cis- and trans-allelism) is formulated. This approach opens a possibility for studying genetic material responsible for the formation of intraspecific similarity characters at different taxonomic levels on the basis of crossing individuals of the same species.

Animals↗
PubMedDate not supplied

[Primary immunodeficiencies and Bruton's disease genetic analysis: which prospects offers this genetic diagnosis?].

Bruton's disease is the most frequently primary X-linked immunodeficiency. Bruton's tyrosine kinase (Btk) is encoded by the XLA gene that when mutated causes bruton's disease. This protein acts in multiple intracellular signaling pathways where the BCR (B-cell receptor) pathway is the most elucidated. Moreover 400 mutations were found and identified as responsible for B-cells differentiation block; consequences are a lack of B-cells in peripheral blood and hypo/agammaglobulinemia. Thus, patients are more susceptible to early and recurring infections occurring before the age of one year. Laboratory testing allow differential diagnosis among primary immunodeficiencies in which others hypogammaglobulinemia. Genetic analyses help physicians for clinical and biological diagnosis, and allow prenatal diagnosis for patient's family. Patient's management is based upon polyclonal immunoglobulin supplementation, infectious diseases prevention and genetic advice.

Adult↗
PubMed1986

Genetic studies of low abundance human plasma proteins. II. Population genetics of coagulation factor XIIIB.

Plasma samples from a large number of different ethnic groups, consisting of U.S. whites, U.S. blacks, Eskimos from Kodiak and St. Lawrence Island, Aleuts of the Pribilof Islands, and three Amerindian groups from Canada and Mexico have been analyzed by isoelectric focusing followed by immunoblotting to determine the magnitude of genetic variation at the F XIIIB structural locus. The synthesis of published data and our new data demonstrate remarkable variation in the distribution of the three common alleles at this locus and establishes F XIIIB as an extremely informative marker for population differentiation and evolutionary studies. Genetic distance analysis based on this variation separates Caucasian, black, and Mongoloid populations into three distinct clusters.

Blood Proteins↗
PubMed1983

[Population genetics of the inhabitants of the European northern RSFSR. VI. The dynamics of the genetic load].

The dynamics of the lethal equivalents in two rural populations of Archangelsk regions during the periods from 1930 to 1953 and from 1954 to 1970 was investigated. The outcomes of 1617 pregnancies for 500 couples were analysed. The coefficient of inbreeding varied fo these couples from 0.001 to 0.08. For computing the genetic load, we followed the the methodology suggested by Morton, Crow and Muller in S. Smith's modification. The importance of comprehensive determination of inbreeding coefficient for reliable estimation of the genetic load was demonstrated. By comparing the two groups, it was shown that the coefficient B diminished approximately twice and the B/A ratio increased in both populations also by the factor of two. It is supposed that the diminishing of the number of lethal equivalents can be explained by a decrease in natural selection pressure. It is also supposed, that the segregational load is more sensitive to the decrease in natural selection pressure.'

Consanguinity↗
PubMed1984

[Medical genetic study of the population of Turkmenia. VI. An analysis of the genetic component of fertility dispersion in the population of Nokhor].

The index of the total opportunity for selection (the Crow index) and the genetic part of total variance in progeny size was studied in small Turkmenian isolated population "Nochur". The average number of children per family in families that had completed their reproductive period was 6.84, the variance being 12.31. The index of total opportunity for selection was computed by the standard method of J. Crow: Jm = 0.313, Jf = 0.454, Jtot = 0.909. Some correlation coefficients of the progeny size were calculated. The sister-sister correlation coefficient was significantly distinguished from 0 and was equal to +0.22. Thus, the genetic part of total variance of the progeny size is 0.4-0.5. It is essential for understanding of the Jf estimation.

Adolescent↗
PubMed1983

[Genetic analysis of the structure of the predisposition to diabetes mellitus. I. Genetic epidemiological approaches to an analysis of age-dependent multifactorial diseases].

The statistical methods for genetic analysis of multifactorial diseases (MFD) with variable age-at-onset are developed. It is emphasized that the index numbers used in the genetical-epidemiological studies, such as frequency of MFD in the population (qg--incidence) and that among family members (PR), should be independent on the demographic structure of both the population and the families. The mathematical grounds for the estimating methods as well as biological meaning for such index numbers are given. The approach suggested will be used later in analysis of the structure of predisposition to diabetes mellitus.

Age Factors↗
PubMed1995

[Genetic polymorphism and gene geography of the indigenous population of the Ural region. I. Genetic structure of the peoples of the Ural region].

The genetic patterns of 25 populations from seven ethnic groups living in the Ural region (Komi, Komi-Permyaks, Udmurts, Mansi, Nentsy, Tatars, and Chuvashes) were studied. Immunological, biochemical, and physiological markers of the loci ABO, FUT, RH, P, FY, DI, KEL, LU, LE, JK, HP, GC, C'3, TF, PI, ACP1, GLO1, ESD, PGD, PGM1, PTC, and CB were studied. The average ethnic frequencies of the alleles and haplotypes studied were estimated. It was demonstrated that the Ural populations living to the west of the Urals, although of different origin, were more similar genetically than populations of common (Ural) origin living on different sides of the Urals, with respect to the majority of the traits studied.

Alleles↗
PubMed1978

Genetic control of the immune response to the H-2Dk private specificity, H-2.32. II. Genetic linkage analysis of a backcross generation.

B10.AKM mice (H-2M) when immunized with H-2k cells showed very low cytotoxic antibody responses to the H-2Dk private specificity H-2.32, whereas AKR.M and (AKR.M X B10.AKM)F1 mice that possess the same H-2m haplotype mounted reasonable anti-H-2.32 antibody responses. The genetic nature of the non-H-2 linked gene(s) controlling the anti-H-2.32 response was analyzed on the backcross progeny raised between (AKR.M X B10.AKM)F1 and B10.AKM mice. The anti-H-2.32 antibody response was found to be predominantly controlled by a single locus. This locus segregated independently of the Ig heavy chain locus, the Ly2 locus, and the Mls locus. Despite the observed difference in antibody production, no significant differences between AKR.M and B10.AKM mice were detected in induction of H-2Dk-specific killer T cells. Thus, the defect in the response of B10.AKM mice to H-2.32 can be detected at the level of B cell function and is controlled by a single non-H-2-linked genetic locus, but is not attributable to genes linked to the major immunoglobulin structural genes nor to the Mls locus.

Animals↗
PubMed1979

Genetic properties of the Salmonella enteritidis R404 plasmid aggregate. IV. Reconstruction in R404 plasmid aggregate and separation of twelve genetically distinct derivative forms.

R404 plasmid aggregate is composed of two conjugative and two nonconjugative plasmids. Plasmid aggregate reconstructed from separated plasmids had the same genetic properties as the original R404 plasmid aggregate. It was found that plasmids of R404 factor could be transferred in conjugation in twelve different sets. These twelve genetically distinct classes of transconjugants formed only six groups differing in phenotypic characters.

Conjugation, Genetic↗
PubMed1997

Genetic studies in Medzev, an isolate in south-eastern Slovakia. 2. Distribution of blood group genetic markers.

Phenotype and gene frequencies of three blood group, four serum protein and seven red cell enzyme polymorphisms were examined in 105 individuals from the population of Medzev, South-Eastern Slovakia. Locus and allele specific tests of homogeneity were calculated in order to obtain the pattern of variation. The results indicate considerable genetic differences between this population and another local population of this region (Chmelnica) as well as between the Medzev population and the total population of Slovakia. The possible reasons of the genetic heterogeneity within Slovakia are discussed.

Analysis of Variance↗
PubMed1997

[Genetic-demographic processes in the Muscovite population in the mid-1990s. Migration and emigration as a factor for changing the genetic diversity of the population].

On the basis of official migration statistics and marriage records, the genetic parameters of migration in the Moscow population over the past 120 years were determined. Although the number of officially registered migrants decreased, the coefficient of marriage migration in the mid-1990s was higher than in the mid-1980s (m = 0.4). The in-migrants considerably differed from Moscow-born residents with respect to their age at marriage, ethnicity, level of education, and speciality. The emigration of the Moscow residents to foreign countries was selective with respect to the educational level and adversely affected the labor, intellectual, and cultural resources of Moscow (the "braindrain"). In the long run, the observed ethnic differences between in-migrants and emigrants may considerably influence the ethnic composition and, hence, genetic diversity of the Moscow population.

Demography↗
PubMed1998

Creation and maintenance of Helix, a Web based database of medical genetics laboratories, to serve the needs of the genetics community.

Helix (healthlinks.washington.edu/helix) is a web accessible database that serves as the main U.S. directory of laboratories offering genetic testing. The database was designed to address the previously unmet need for a centralized, continuously updated source of information about clinical and research genetic testing to keep pace with the rapid rate of gene discovery resulting from the Human Genome Project. The Helix project began in 1992 at the University of Washington and Children's Hospital and Regional Medical Center. It has evolved from a single user stand alone relational database to a fully Web enabled database queried and maintained via the web and linked to other web accessible genomic databases. As of February, 1998 it lists more than 500 diseases and 290 laboratories, with over 5,200 registered users making approximately 250 queries/day (90% via the Internet). We describe the iterative design, implementation, population and assessment of the database over a six year period.

Database Management Systems↗
PubMed1997

Genetic analysis of bipolar disorder: summary of GAW10.

Participants in the Bipolar Disorder component of Genetic Analysis Workshop 10 had access to five distributed data sets containing chromosome 18 marker data and five data sets containing chromosome 5 data. A total of 25 groups participated in analyses and applied a myriad of methodologically innovative approaches to these data. Contributors focused on how to: (1) best define the phenotype from the spectrum of affective diagnoses; (2) test for a parent-of-origin effect in the transmission of bipolar illness and assess whether sharing in affected sib pairs depends on the sex of the transmitting parent; (3) evaluate the effects of misspecification of marker allele frequencies; (4) examine the putative candidate loci provided; (5) investigate the mode of inheritance; and (6) perform a meta-analysis to combine multiple data sets in a single analysis. Taken as a whole, the results would appear suggestive, but not definitive for linkage to a bipolar susceptibility locus on chromosome 18. The evidence for linkage appeared to increase as the diagnostic definition of the phenotype was broadened. Multipoint analyses seem to provide less evidence. It is possible that, because adjacent markers may be present in different data sets, the multipoint methods are combining marker data from different studies in a more comprehensive way than single marker analyses. Evidence on chromosome 5 and evidence for candidate loci were minimal. A discussion of problems inherent in combined analyses is given.

Alleles↗
PubMed1985

Multiallelic restriction fragment polymorphisms in genetic counseling: population genetic considerations.

The use of selectively neutral, multiallelic molecular markers to trace the transmission of tightly linked genes is examined theoretically for all genetic counseling situations in which the diagnosis of deleterious progeny is desired. Formulae are computed in terms of the gametic frequency distribution in the population, for the expected fraction of matings (alpha i) which allow exact diagnosis on the basis of the marker alleles transmitted, assuming an arbitrary number (n) of alleles segregating at the marker locus and possibly nonrandom associations between the loci. In each case, it is shown that the diagnostic value of a multiallelic marker increases as n increases, with approximately 1-1/n matings informative, on average.

Alleles↗
PubMed1989

Molecular genetics of transformer, a genetic switch controlling sexual differentiation in Drosophila.

The transformer gene is one of a set of regulatory genes that form the hierarchy controlling all aspects of somatic sexual differentiation in Drosophila melanogaster. The gene transformer occupies an intermediate position in this hierarchy. Analysis of this gene has allowed us to determine the mechanism by which it is regulated in a sex-specific manner and to examine the way in which the regulatory hierarchy is organized. The female-specific expression of the tra gene, previously inferred from genetic observations, is based on sex-specific alternative splicing of tra pre-mRNA and is not the result of sex-specific transcriptional activation. The female-specific RNA produced by this alternative splicing is the functional mediator of tra activity. Multiple genetic, molecular, and transformation experiments show that female-specific activation of genes or gene products occurs in the order Sex lethal greater than transformer greater than transformer-2 greater than doublesex greater than or equal to intersex greater than female differentiation. The results do not distinguish the level at which transformer might regulate the downstream gene transformer-2. Neither transformer nor any of the down-stream genes feedback on, or participate in, alternative splicing of transformer RNA. The mechanism by which Sex lethal regulates transformer splicing appears to be a repression of the use of one of a pair of splice acceptor sites.

Amino Acid Sequence↗