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At least 1,045 records · Page 58Linked to original sources
PubMed2005

[The genetic diversity and genetic effects of Myf-6 gene in different pig breeds].

As a member of MRFs, Myf-6 gene plays an important role in the progress of myogenesis. The PCR-RFLP technique was applied in this study to analyze the distribution of Myf-6 gene in 12 different pig breeds and hybrid breeds. The genetic effects of Myf-6 gene on muscle fiber, carcass quality, carcass grading traits and meat quality traits were analyzed. The results indicated that: The polymorphisms of Myf-6/Ava I genotypes (intron1) were not abundant. Most of Chinese native pigs were AA homozygotes. B allele can be found only in foreign pig breeds and hybrid pigs originated from foreign pig breeds. Although no BB individuals were found in the experiment, the carcass lean percent of AB individuals (50.344 %) was significantly higher than that of AA individuals (45.875 %)(P<0.01), the loin eye area of AB individuals (27.097 cm2) was significantly larger than that of AA individuals (22.572 cm2)(P<0.01), and the carcass fat content of AB individuals (39.889 %) was significantly lower than that of AA individuals (44.503 %)(P<0.01). That means that the B allele can increase carcass lean percent and loin eye area, and decrease the carcass fat content, thus cause better carcass quality. No significant effects of the genotypes were found on the muscle fiber, FOM carcass grading traits and meat quality traits (P>0.05).

Alleles↗
PubMed1991

[Genetics and genetic counseling: the retinoblastoma case].

Forty-percent of retinoblastomas are due to a mutation inherited as an autosomal dominant trait with a high penetrance. Cytogenetic forms of retinoblastoma have led to the location of the gene, to the identification of numerous chromosome 13 specific DNA polymorphisms, and to the cloning of the gene. Intragenic DNA polymorphisms are now known. Using Southern blot hybridization, study of the mutation is possible either by direct analysis or by an indirect approach using linkage with polymorphic genetic markers. The majority of cases cannot be examined by these techniques. Their value and limits are discussed.

Alleles↗
PubMed1990

Population-genetics approach to the genetics of human behaviour.

Invariant values of inheritance factors within and between different populations can show the existence of and measure the degree of genetic determination of behavioural characters. The absence of inbred depression of quantitative behavioural characters in isolated populations of highland inhabitants of Daghestan is demonstrated by means of comparative analysis of the mean population values of psychophysiological characters in outbred, moderately isolated, and extremely isolated (and inbred) populations. The absence of pronounced adverse effects of inbred marriages, known as the 'Daghestan phenomenon', is explained by the antiquity of the native populations and the severe ecological conditions under which these populations live which have led to elimination of carriers of hereditary diseases and other detrimental phenotypes.

Adolescent↗
PubMed1989

Behavior-genetic analysis of the paradise fish, Macropodus opercularis. III. Genetic analysis of the response to novelty using recombinant inbred strains.

Fifteen behavioral measurements were taken on paradise fish of two inbred progenitor strains and of 16 recombinant lines derived from their cross and maintained under inbreeding with gynogenesis and sib-mating. Univariate and multivariate analyses showed significant differences among the RI means on all measures. Four combined variables extracted by principal component analysis showed that there were common sources of a large part of the behavioral variability measured in the arbitrarily designed test situations. There were no separate subgroups of the RI strain means, and overlapping ranges point to a polygenic genetic determination of the studied behavioral phenotypes. A biometrical analysis of the distribution pattern of recombinant lines and the progenitor strains showed that in several characters non-allelic genic interactions made a significant contribution to the variation. Additive and interaction components of the mean, the heritabilities and the minimum number of effective factors were estimated for all studied behavioral phenotypes, and the combined variables as well.

Animals↗
PubMed1989

[The genetics and molecular genetics of X-chromosomal recessive ichthyosis].

X-linked ichthyosis has been shown to be associated with the deficiency of the steroid sulfatase/arylsulfatase C. The molecular biological results are reviewed concerning the localization of the steroid sulfatase gene to the distal short arm of the X chromosome and the molecular defects of this gene in patients of X-linked ichthyosis. The conclusions are summarized for genetic counselling, carrier detection and prenatal diagnosis.

DNA Probes↗
PubMed1986

[Medico-genetic study of the population of Uzbekistan. VIII. Territorial distribution of hereditary diseases in the population of four regions of the Khorezm province and its genetic load].

The load of hereditary diseases was estimated on the basis of data obtained during medical-genetic study of the population of four districts of Khorezm province. The load of autosomal recessive disorders comprised 2-3 X 10(-3) affected, that of autosomal dominant disorders - 0.4-0.5 X 10(-3) and that of X-linked disorders - 0.2-0.4 X 10(-3) males. The main part of patients with autosomal recessive disorders belonged to separate families randomly spread over the populations. A trend for local accumulation of families with the same disorder was observed in small populations. It was shown that overall frequency of autosomal recessive genes per individual increased with the increase in the population size.

Gene Frequency↗
PubMed1986

Genetic polymorphism of IgG in mink. II. A genetic analysis of allotypes.

Population distribution and inheritance pattern were analyzed in mink IgG allotypes: L1 (L chains), H2, H3, H4, H6, H7, and H8 (the constant region of the H chains, i.e. C gamma-allotypes) and conformational allotype 5 with unknown chain localization. Contrary to expectation, neither allelism, nor close linkage were demonstrated for these allotypes. The major feature of the inheritance of H2, H3, and H4 C gamma-allotypes, as well as allotype 5, was significant excess of negative (without these allotypes) progeny in the F1 generation from monohybrid cross. The explanation offered for this departure of the C gamma-allotypes from normal Mendelian genetics suggests widespread latencies of their expression in mink.

Animals↗
PubMed1978

Detection of genetic variation with radioactive ligands. III. genetic polymorphism of transcobalamin II in human plasma.

We detected genetically determined, electrophoretic variants of vitamin B12 binding proteins, most probably transcobalamin II, in human plasma. Polymorphic variants were observed in all populations tested; the two most common alleles (of at least four detected to date) attain frequencies of greater than 40% in Caucasians and Orientals. The variants are autosomally inherited and are seen as doublets in homozygotes, and four-banded patterns, the sum of two dissimilar homozygote patterns, in heterozygotes. The technique used in this survey, polyacrylamide gel electrophoresis (PAGE) autoradiography of plasma and serum labeled in vitro with 57Co-vitamin B12 is particularly applicable to the study of trace proteins such as the transcobalamins (10(-9)M). Possible functional variation in the TC II allele products is described, and the selective significance of this worldwide polymorphism is considered.

Autoradiography↗
PubMed1981

[Hereditary ataxia-problems in the classification, genetics and genetic counseling].

Heredoataxias correspond to a larger number of etiologically different and for the greatest part not yet clarified neurogenic clinical pictures, the common characteristics of which are only the heredity and the leading symptoms of the spinocerebellar ataxia. A systematization and classification of the heredoataxias is therefore above all still based on clinical and pathologo-anatomical signs and may scarcely consider etiologic points of view. Own observations of two of the most important hereditary forms of ataxia, of Friedreich's disease and of the autosomal dominant cerebellar ataxias (Pierre Marie) make clear the problems of the diagnostic limitation and of the genetic advice. From these observations and from the literature references for an optimum subtile clinical and paraclinical diagnostics in heredoataxias are derived.

Ataxia↗
PubMed1995

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

A cystinuria disease gene (rBAT) has been recently identified, and some mutations causing the disease have been described. The frequency of these mutations has been investigated in a large sample of 51 Italian and Spanish cystinuric patients. In addition, to identify new mutated alleles, genomic DNA has been analyzed by an accurate and sensitive method able to detect nucleotide changes. Because of the lack of information available on the genomic structure of rBAT gene, the study was carried out using the sequence data so far obtained by us. More than 70% of the entire coding sequence and 8 intron-exon boundaries have been analyzed. Four new mutations and seven intragenic polymorphisms have been detected. All mutations so far identified in rBAT belong only to cystinuria type I alleles, accounting for approximately 44% of all type I cystinuric chromosomes. Mutation M467T is the most common mutated allele in the Italian and Spanish populations. After analysis of 70% of the rBAT coding region, we have detected normal sequences in cystinuria type II and type III chromosomes. The presence of rBAT mutated alleles only in type I chromosomes of homozygous (type I/I) and heterozygous (type I/III) patients provides evidence for genetic heterogeneity where rBAT would be responsible only for type I cystinuria and suggests a complementation mechanism to explain the intermediate type I/type III phenotype.

Alleles↗
PubMed1975

Analysis of genetic and environmental sources of variation in serum cholesterol in Tecumseh, Michigan. I. Analysis of the frequency distribution for evidence of a genetic polymorphism.

Analyses of serum cholesterol measurements on 4,619 males and 4,730 females residing in the community of Tecumseh, Michigan, were conducted to estimate the contribution of sex, age, temporal variation, and bimodality to determining the normal variation among individuals sampled without regard to their health status. Female values had a higher mean (2.8 mg/100 ml greater) but smaller variance than males when adjusted by polynomial regression to a common age. Positive skew in the frequency distribution for both sexes was removed by natural logarithm (ln) transformation. Age variation accounted for 28.5% and 29.4% of the variance in a ln cholesterol measurement of males and females, respectively. Between 7% and 10% of the variance in a ln cholesterol value was estimated to be attributable to differences between age-adjusted replicate measurements of the same individual. The reduction in individual variability by adjustment for these contributions to variance will allow a more precise evaluation of the relative contribution of alternate genetic hypotheses as explanations for normal variation in cholesterol. Assuming bimodality, approximately one in 1,000 males and one in 1,000 females belong to a second mode of hypercholesterolemic individuals. The locus determining familial hypercholesterolemia is not a major source of normal phenotypic variation in the Tecumseh population.

Adolescent↗
PubMed1995

Genetic polymorphisms of the Caucasus ethnic groups: distribution of some blood group genetic markers (Part II).

The compiled data on the distribution of polymorphic blood groups (ABO, Diego, Duffy, Kell-Cellano, Kidd, MN, MNSs, P, Penney, Rh(D), Rh-Hr), secretion ABH antigens in saliva, HLA system (HLA-A, HLA-B, HLA-C, HLA-DR), immunoglobulin (GM1) and other miscellaneous data (phenylthiocarbamide taste, tongue rolling) in the Caucasus are presented. Results of the interpopulation heterogeneity test show that, in spite of the limited territory of the Caucasus, a high level of genetic variability was observed. In terms of gene frequencies, these ethnic groups are approximately equidistant from European and West Asian Populations.

Asia, Western↗
PubMed1995

Genetic polymorphisms of the Caucasus ethnic groups: distribution of some serum protein and red cell enzyme genetic markers (Part I).

The compiled data on the distribution of polymorphic serum proteins (HP, C3, GC), red cell enzymes (ESD, GlO1, PGD, AK1, ADA, GPT, PGP, PGM1, ACP1) and also on some monomorphic systems (ALB, CAI, CAII, CP, G6PD, HBA, HBB, IDH1, LDHA, LDHB, MDH1, PEPA, PEPB, PEPC, PGM2, PHI, TF) in the Caucasus are presented. The interpopulation heterogeneity test shows a high level of genetic differentiation in the following loci: HP, GC, ESD, AK1, TF, PGD. Gene frequencies in the Caucasian ethnic groups were found to be approximately equidistant from those of European and West Asian populations, in line with their geographical location.

Asia, Western↗
PubMed1997

Human molecular genetics research at the International Centre for Genetic Engineering and Biotechnology.

The ICGEB started its activity in 1987 as a special project of UNIDO (United Nations Industrial Development Organization) and operates now as a fully autonomous International Organization, of which 40 countries are members at present. The mandate of ICGEB is to become a Centre of excellence for research and training in modern biology addressed to the needs of the developing world. The ICGEB consists of two main laboratories, one in Trieste (where the direction of the Centre is also located) and one in New Delhi, plus a network of 30 Affiliated Centres. The Centre operates through: 1) specific research programs of hish scientific content at the Trieste and New Delhi laboratories; 2) long term training through post-doctoral and pre-doctoral fellowships; 3) short term training; 4) collaborative research program, through which the Centre finances research projects of major impact to the need of the Member States; 5) scientific services, namely consultation for scientific programs, distribution of reagents and a bioinformatics network particularly geared to the human genome research. The research on human molecular genetics in particularly active in the Trieste Component and concerns the study at the molecular level of several genes important for human health: control of DNA replication, response to infectious diseases, cardiocirculatory diseases, cystic fibrosis and cancer. The methodologies for developing new diagnostic methods and for developing gene therapy protocols are actively pursued. Through these programs, the member countries have access to state-of-the-art technologies anf know-how essential for the development of the molecular approaches to medicine brought forward by the study of the human genome.

Biotechnology↗