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At least 1,135 records · Page 63Linked to original sources
PubMed1986

Genetics of antibody responsiveness to bovine serum albumin and rabbit gamma-globulin. II. Evidence for a partially common genetic regulation of response to bovine serum albumin and rabbit gamma-globulin.

In order to measure the reciprocal nonspecific effect of the genetic regulation of antibody responsiveness to bovine serum albumin (BSA) and rabbit gamma-globulin (RGG), two independent bidirectional selective breedings for responses to these two antigens were carried out: selection V/BSA and selection V/RGG respectively. The total interline separation at selection limit (RT) was 5.3 log2 for selection V/BSA and 2.6 log2 for selection V/RGG. The sum of these two values (7.9 log2) is similar to the RT in selection V carried out by alternating these two antigens in consecutive generations. In selection V/BSA, the nonspecific effect for responsiveness to RGG was 72%. In selection V/RGG, the nonspecific effect for BSA responsiveness was 135%. The F1 hybrids between homologous lines of selection V/BSA and selection V/RGG presented a larger difference in antibody response to both antigens than their parental lines. This demonstrates an additive effect of the loci controlling the two responses.

Animals↗
PubMed1988

[Genetic analysis of mitochondrial rho-mutability in Saccharomyces yeasts. VI. Quantitative characteristics of the effect of mutation srm5 on the mitochondrial stability of natural and recombinant genetic structures].

The srm5 mutation diminishes the spontaneous rho- mutation rate by an order of magnitude. Frequency of rho- mutations is 500 times lower in homozygous cultures, as compared with those of normal SRM+/SRM+ diploids. The rate of spontaneous loss of extra chromosome IV is about 25 times higher in srm5 disomes, as compared with SRM+ ones. Haploid srm1 srm5 transformants loose recombinant circular minichromosomes spontaneously about 4 times more frequently than srm1SRM5 cells. The data presented suggest that general control of mitotic stability of different (mitochondrial and nuclear, nuclear as well as recombinant) genetic structures operates in Sacch. cerevisiae. Autonomously replicating sequences (ARS elements) seem to be involved in this mechanism.

DNA, Fungal↗
PubMed1988

Innovations in human genetics education. Genetic applications for health professionals: an outreach continuing-education model program.

A system for extending continuing education in genetics to nurses and other practicing health professionals was developed in an eight-state area. Coordinators from state agencies received special training at the University of Colorado to administer the course in local communities. A combination of classroom instruction, independent study, computer-assisted instruction, and case-study methods for course delivery was included. More than 300 health professionals have completed the course, and 14 coordinators from seven states have been prepared to administer future courses. The model has demonstrated high potential for replication in other regions.

Colorado↗
PubMed1987

[Genetic and epidemiologic study of blood pressure in an autochthonous population of the Northern Ob basin. Evaluation of heredity of blood pressure parameters and correlations of arterial hypertension and genetic markers].

A study of intrafamilial correlations between systolic and diastolic arterial blood pressure, and the heritability of these parameters as well as relationships between some genetic markers and arterial hypertension in a Northern Khant population is reported. There were no correlations in the BP parameters mentioned between spouses, while the sibs correlations prevailed over the parents-children ones. Heritability was higher for systolic BP, as compared to diastolic BP. A relationship was demonstrated between MN blood group and arterial BP. Males with phenotype O were shown to be less adaptable to diastolic BP rise.

ABO Blood-Group System↗
PubMed1986

Genetic epidemiology and control of genetic expression in van der Woude syndrome.

By three pedigree and statistical criteria van der Woude syndrome (VWS) appears to have been underreported and frequently not diagnosed. Eight percent of gene carriers are not diagnosed because they are nonpenetrant. But among penetrant gene carriers as many as 80% may not have been recognized in the past. A direct estimate of incidence of VWS is 3.6/100,000 births; indirect estimates are more than double that. The relative risk of inheriting a cleft from an affected parent is 22.43%; the risk of inheriting lip pits only, or being nonpenetrant is 27.57%. (This corrects a similar statement in the abstract of Burdick et al [J Craniofacial Genet Dev Biol 5:181-208, 1985], which was incorrectly calculated). The idea of unitary control of the action of the VWS gene in the three target tissues appears not to be supported. Rather, we tend to support the idea that the gene is controlled independently in the three tissues. Indications of a family at risk are listed and discussed.

Cleft Lip↗
PubMed1987

[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.

Consanguinity↗
PubMed1985

[Fetal or neonatal autopsy and genetic counseling. Experience of the Human Genetic Service of Liège].

From January 1976 to June 1984, 308 necropsies were performed on neonates and fetuses of various gestational age, mainly coming from hospitals of the province of Liege. 41% of the necropsied infants have at least one malformation and 34% of the malformed show multiple birth defects. There were 17 anatomo-clinic diagnoses of chromosomal aberrations but only 12 cases were confirmed by caryotype, for practical or technical reasons. One third of the parents of the necropsied infants came for genetic counselling with a high recurrence risk in 13% of the advices. For further improvement of the possibilities of diagnosis, we are pleading in favour of more frequent radiological and chromosomal fetal examinations. This must lead us to better convince obstetricians and neonatologists and get more favourable practical conditions to carry out the necropsies.

Abnormalities, Multiple↗
PubMed1981

Genetics of the low density lipoprotein receptor: II. Genetic control of variation in cell membrane low density lipoprotein receptor activity in cultured fibroblasts.

Fibroblast low density lipoprotein (LDL) plasma membrane receptor activity, measured as 125I-LDL association (plasma membrane binding plus intracellular accumulation) and degradation was determined in cell strains from 14 monozygotic (MZ) and 21 like-sexed dizygotic (DZ) normolipidemic twin pairs. The twins were between 57 and 62 years old and had liver apart for an average of 38 years (range 0-60). The intrapair differences were significantly smaller in MZ than in DZ twin pairs in fibroblast 125I-LDL association as well as degradation assays (P less than 0.05). These findings suggest a genetic influence on normal variation in LDL receptor activity in vitro. In two MZ pairs discordant for psoriasis, the psoriatic twin had markedly lower LDL receptor activity than the cotwin.

Cell Membrane↗
PubMed1981

Investigation on the distribution of genetic polymorphisms in Greece. 3. Red cell enzyme polymorphisms and genetic distances G.

112 Greeks living in W. Germany and coming from various parts of Greece and 280 individuals from the Isle of Alonissos (northern Aegean Sea) have been typed for seven polymorphic red cell enzymes, namely red cell acid phosphatase (aP), phosphoglucomutase (PGM1) adenylate kinase (AK), 6-phosphogluconate dehydrogenase (6-PGD), esterase D (EsD), glutamic-pyruvic transaminase (GPT), and glyoxylase I (GLO). The gene frequencies obtained in these two samples are compared with the hitherto reported corresponding data from other Greek populations. Finally genetic distances (basing on six polymorphic serum protein and red cell enzyme systems) have been computed for seven Greek population samples. The results of these distance measurements are discussed.

Acid Phosphatase↗
PubMed1983

Detection of genetic variation with radioactive ligands. V. Genetic variants of testosterone-binding globulin in human serum.

We examined genetically determined polymorphisms in testosterone-binding beta-globulin (TeBG) by polyacrylamide gel electrophoresis (PAGE). Four electrophoretic variants were identified, which we suggest are the result of combinations of three alleles. Gene frequencies were calculated for the three alleles in white American, black American, and Japanese-American populations. There was good agreement between observed and expected phenotype numbers. Distribution of phenotypes among offspring of several crosses was consistent with simple Mendelian inheritance of an autosomal gene.

Black or African American↗
PubMed1981

Some genetic erythrocyte polymorphisms in the Mbugu and other populations of the Central African Republic with an analysis of genetic distances.

Phenotype and gene frequencies of four blood group polymorphisms (ABO, MNSs, Rhesus, and Duffy) as well as hemoglobin types of four populations of the Republic of Central Africa are reported. All these polymorphisms are in Hardy-Weinberg equilibrium. Regarding the four blood group polymorphisms mentioned above the genetic distances according to NEI have been computed for fifteen populations of the Central-Eastern and Central-Western areas of Africa, including the four own samples. The results of these analyses are discussed.

ABO Blood-Group System↗
PubMed1980

[Population genetics approach to the problem of nonspecific biological resistance of the human body. II. Clinical characteristics, congenital anomalies and genetic structure of sick children with attention to birth weight and length].

Clinical analysis of several groups of newborns and infants arranged by 2 metrical characters has shown that morphologically average individuals ("adaptive norm") are most resistant to the wide range of diseases including congenital malformations. The frequency of grave diseases and congenital malformations is much higher in newborns and infants with extreme (especially low) values of characters, each group of extreme variants being characterized by a specific set of diseases. Statistically significant differences in genetic structure of these groups are detected: departures from Hardy-Weinberg equilibrium and lower level of heterozygosity for ABO and Ww loci are observed in a group of children with low weight and body length values. These features are most pronounced in the group comprising dead newborns and infants.

ABO Blood-Group System↗
PubMed1975

[Genetic-biochemical study of acid phosphatases from Saccharomyces cerevisiae yeasts. IV. Genetic control of acid phosphatase II activity].

Genetic control of exocellular acid phosphatase of yeast Saccharomyces cerevisiae (acph 2) is studied. 64 mutants with the impaired activity of acid phosphatase have been obtained by UV-irradiation. All the mutations have been distributed among 4 genes: ACP1, ACP2, ACP3, ACP4 using functional and recombinational tests for allelism. It is shown that mutations in genes ACP1--ACP3 are recessive, but in the gene ACP4--dominant. The gene ACP4 is found to be located 0.41+/-0.064 in strains from centromere and to have no linkage with ACP1. Possible functions of genes studied are under discussion.

Acid Phosphatase↗
PubMed1995

Genetics in cancer prediction, screening, and counseling: Part I, Genetics in cancer prediction and screening.

PURPOSE/OBJECTIVES: To review molecular biology and gene technology as they relate to cancer prediction and screening. DATA SOURCES: Published professional articles, texts, and proceedings; computerized data bases. DATA SYNTHESIS: Basic principles of inheritance and mutations; a discussion of proto-oncogenes, oncogenes, and anti-oncogenes; a summary of gene-mapping techniques; and a review of genes linked to familial, breast, ovarian, and colorectal cancers. CONCLUSIONS: Most human cancers are influenced genetically but are not inherited. Discoveries about cancer genes play a major role in identifying individuals and families who are likely to develop cancer. IMPLICATIONS FOR NURSING PRACTICE: Nurses need to heighten their awareness of this science and its ramifications, which ultimately will affect recommendations for early detection and screening.

Genes, Tumor Suppressor↗
PubMed1995

[Clinico-genetic aspects of cutaneous melanoma. I. Incidence, familial study, genetic heterogeneity].

Epidemiologic and clinical genetic data on cutaneous malignant melanoma (CMM) are presented. The incidence of CMM in Moscow from 1983 to 1987 was analyzed. Cumulative incidence (cumulative risk) was calculated for various life periods on the basis of estimates for various age groups, which were used as population frequencies. By the age of 85, these frequencies were 0.35% for males and 0.38% for females. Among relatives of patients, the incidence of CMM was 1.420 +/- 0.498% for males and 1.110 +/- 0.348% for females; i.e., the incidence exceeded the population frequency by a factor of 3 or 4. As a whole, the familial frequency of cancer was equal to 13.3% for male probands and 14.2% for female probands, i.e., more than three times higher than the population frequency. The data obtained formed the basis for the development of CMM classification. hereditary and nonhereditary variants of cutaneous melanoma were identified. Familial cases and CMM that occurred against the background of inherited disease or syndromes were classified as hereditary variants of CMM; taken together, they accounted for 38.8%. The data provided grounds for identification of families at increased risk for the development of CMM.

Female↗
PubMed1997

[The importance of molecular genetic diagnosis of Martin-Bell disease in genetic counseling].

The female consultant had two mentally retarded boys from her two marriages. The clinical symptoms and Fra-X chromosomes indicated their Martin-Bell disease. The daughter of the consultant is healthy and Fra-X negative. She is pregnant and insisted on her molecular genetic diagnosis due to an international collaboration. Both affected brothers had FRAXA genes with a full mutation including more than 200 CGG methylated repeats. The consultant female was in the phase of premutation, however, her healthy daughter had two normal 50% methylated genes with 19 and 26 CGG repeats. Thus there is no recurrence risk for Martin-Bell disease in her fetus.

Adult↗
PubMed1997

[Molecular genetics of myotonic dystrophy--population genetics of the CTG repeat expansion of the MTPK gene].

The CTG repeat number in the 3'-untranslated region of the myotonin protein kinase (MTPK) gene varies between 5 and 37 in normal individuals, whereas myotonic dystrophy (DM) patients have expansions from 50 to 3000 copies. However little is known about the molecular mechanisms or the genetic control of the expansion of triplet repeats. To explain the dynamic mutation mechanism and high prevalence in the population, slippage theory, multistep model and meiotic drive hypothesis have been proposed. Recent studies have shown that repeat expansion may affect neighboring genes (59 gene and DMAHP gene), or exert its effect at the RNA level by modulating the binding of (CUG)n-RNA binding proteins which are required for the maturation, stability and translation of specific mRNAs.

Genetics, Population↗