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Results for “Genetic Analysis”

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At least 19 recordsLinked to original sources

PubMed1976

[Genetic analysis of microcephaly].

A clinical genetic examination of 22 cases of hereditary microcephaly in 11 families was carried out. Parent consanguinity (first and second cousins) was ascertained in 7 families. Genetic analysis of the experimental material performed by Weinberg's method showed significantly recessive course of the genuine microcephaly inheritance. High frequency of low degree mental retardation (30%) among probable recessive genes carriers of microcephaly (of the parents and their siblings) was ascertained and that confirmed the possibility of gene heterozygous state manifestation. The gene frequency fluctuated from 0,0042 to 0,024. About 3500 people might show low forms of mental retardation in connection with probable non-penetration (about 30%) of the microcephaly genes being in heterozygols state.

Consanguinity↗

PubMed1979

[Problems in the genetics of stress. IV. A genetic analysis of the level of autonomic reactivity in emotional stress in rats].

A genetic analysis of hypertensive reactions under condition of emotional stress in three inbred strains of rats (Wistar, Sprague-Dowly and August) and their F1 reciprocal hybrids is carried out. Highly significant genotypic differences in the arterial pressure level during emotional stress and no genetic diversity in the basal state were found. Application of our own methos to genetic analysis of incomplete diallelic tables for Griffing's experimental design 1 (model 1) showed an existence of significant additive component of genetic variance in autonomic reactivity under the stress. The role of the stress as a factor of differentiation of the genetic structure of population is discussed.

Analysis of Variance↗

PubMed1976

Genetic analysis of enzyme polymorphisms in plaice (Pleuronectes platessa).

Genetic analysis was performed on five enzyme systems (G3PDH; GPI-A; GPI-B; PGM; MDH-A) in plaice (Pleuronectes platessa) collected in spawning condition from the North Sea. Conventional crosses, induced gynogenesis and induced triploidy were performed. The data conclusively demonstrated the inheritance of isozymes by co-dominant alleles at individual loci for each system. No linkage was observed but tests did not include MDH nor the possibility of linkage between G3PDH and GPI-A. Some anomalous segregation ratios were observed, particularly a deficiency of heterozygotes for GPI-A, but the data were largely in conformity with Mendelian expectations. At the PGM locus, five independent anomalous individuals were scored and interpreted as mutations with a mutation rate of 1.1 X 10(-3) per gamete. Recombination with the centromere was assessed and induced triploidy and cross-over values of 41 per cent for PGM, 19 per cent for MDH-A and 9 per cent for GPI-B were derived on the assumption of complete interference. Amongst the parent fish, genotypic and phenotypic frequencies were largely consistent with the expectations of the Hardy-Weinberg Law, and allelic frequencies were not significantly different between year of collection or location of collection ground.

Animals↗

PubMed2024

Exploring the potential of genetic analysis in historical blood spots for patients with iodine-deficient goiter and thyroid carcinomas in Switzerland and Germany (1929-1989).

Iodine deficiency-induced goiter continues to be a global public health concern, with varying manifestations based on geography, patient's age, and sex. To gain insights into clinical occurrences, a retrospective study analyzed medical records from patients with iodine deficiency-induced goiter or thyroid cancer who underwent surgery at the Community Hospital in Riehen, Switzerland, between 1929 and 1989. Despite today's adequate iodine supplementation, a significant risk for iodine-independent goiter remains in Switzerland, suggesting that genetic factors, among others, might be involved. Thus, a pilot study exploring the feasibility of genetic analysis of blood spots from these medical records was conducted to investigate and enhance the understanding of goiter development, potentially identify genetic variations, and explore the influence of dietary habits and other environmental stimuli on the disease.Blood prints from goiter patients' enlarged organs were collected per decade from medical records. These prints had been made by pressing, drawing, or tracing (i.e., pressed and drawn) the removed organs onto paper sheets. DNA analysis revealed that its yields varied more between the prints than between years. A considerable proportion of the samples exhibited substantial DNA degradation unrelated to sample collection time and DNA mixtures of different contributors. Thus, each goiter imprint must be individually evaluated and cannot be used to predict the success rate of genetic analysis in general. Collecting a large sample or the entire blood ablation for genetic analysis is recommended to mitigate potential insufficient DNA quantities. Researchers should also consider degradation and external biological compounds' impact on the genetic analysis of interest, with the dominant contributor anticipated to originate from the patient's blood.

Humans↗

PubMed2025

Genetic analysis in African ancestry populations reveals genetic contributors to lung cancer susceptibility.

Striking disparities in lung cancer exist, with Black/African American individuals disproportionately affected by lung cancer, yet the genetic architecture in African ancestry individuals is poorly understood. We aimed to address this by performing a comprehensive genetic association study of lung cancer, incorporating local ancestry, across 6,490 African ancestry individuals (2,390 individuals with lung cancer and 4,100 control subjects). We identified a single genome-wide significant (p < 5 × 10-8) locus, 15q25.1 (lead SNP rs17486278, OR [95% CI] = 1.34 [1.23-1.45], p = 4.52 × 10-12), that has consistently shown a strong association with lung cancer across populations. Additionally, we identified nine suggestive (p < 1 × 10-6) loci. Four of these loci (3p12.1, 8q22.2, 14q11.2, and 18q22.3) have no prior reported associations with lung cancer. We performed a multi-ancestry lung cancer meta-analysis using prior large-scale summary statistics from European and Asian ancestry populations, incorporating our African ancestry results. The meta-analysis identified 17 genome-wide significant loci, including an association with locus 4q35.2 (p = 1.22 × 10-8), a genomic region that has been previously linked to forced expiratory volume. Genome-wide SNP-based heritability for lung cancer was 16% among African ancestry individuals. Follow-up in silico functional analyses identified genetically regulated gene expression (GReX) of nine genes (AC012184.3, ADK, CCDC12, CHRNA3, EML4, PSMA4, SNRNP200, TMEM50A, and ZYG11A) associated with lung cancer risk and biological pathways relevant to cancer and lung function. Cumulatively, these findings further elucidate the genetic architecture of lung cancer in African ancestry individuals, confirming prior loci and revealing new loci.

Female↗

PubMed1976

Sexual and parasexual approaches to the genetic analysis of the laboratory mouse, Mus musculus.

The mouse genetic map has been characterized largely through breeding studies based on the principles of Mendelian genetics. More recently, specific genetic information has been obtained from somatic cell studies using the techniques of in situ hybridization and somatic cell hybridization. The genetic analysis possible through these sexual and parasexual approaches is described, and specific linkage information from recent somatic cell studies is reviewed.

Animals↗

PubMed1979

Genetic analysis of an osmotic sensitive Saccharomyces cerevisiae mutant.

The genetic analysis of VY1160 sorbitol dependent, osmotic sensitive yeast mutant led to the identification of three different nuclear recessive mutations. Two of them, designated sorb- and ts1 are closely linked to one another. The mutation sorb- determines the lysis, while the mutation ts1 increases the ability for lysis of the sorbitol dependent cells. The third mutation ts2 segregates independently from the other two and confers the sensitivity of VY1160 mutant cells towards rifampicin.

Genes, Recessive↗

PubMed1975

Genetic analysis of mitomycin C-induced interchange in Drosophila melanogaster females.

A genetic analysis of an array of mitomycin-induced rearrangements in immature Drosophila oocytes is reported. Induced aberrations were recovered representing detachments of the compound-X chromosome, Y chromosome fragments, X chromosome loss and mosaicism. The spectrum of rearrangements induced by mitomycin C was very similar to that induced by X-ray treatment of immature oocytes. This work suggests that mitomycin C has two models of action. The drug is radiomimetic for it induces the types of aberrations recovered after X-irradiation. Mitomycin C also seems to have a delayed effect which is reflected in the relatively high recovery of mosaics.

Animals↗

PubMed1978

A genetic analysis of the hyperthermic response to d-amphetamine in two inbred strains of mice.

A genetic analysis of amphetamine-induced hyperthermia was conducted in inbred mice of the strains Balb/c and C3H and in their F1F2 and backcross generations. The results of biometric analysis indicate that the effect of amphetamine on body temperature is genetically determined. The mode of inheritance characterized by a partial dominance (Balb/C over C3H strain). However, a possible maternal effect of C3H can overcome the dominant effect in male progenies and inhibit amphetamine hyperthermic effect.

Animals↗

PubMed1976

The effect of caffeine on repair systems in oocytes of Drosophila melanogaster. III. Genetic analysis of factors controlling maternal repair in a repair-deficient strain of Drosophila melanogaster.

Genetic analysis was performed to locate the factors involved in the defective repair mechanism in the oocytes of Ubx e4/Payne ca females. The results demonstrate that at least three third-chromosome factors may be involved in the control of maternal repair, the two most effective ones being located on the right arm of the third chromosome, one near the Ubx locus and the other near the ca locus.

Animals↗

PubMedDate not supplied

Genetic analysis of two enzyme polymorphisms in a malaria vector mosquito: octanol dehydrogenase and acid phosphatase in Anopheles culicifacies Giles.

Genetic analysis was performed on two polymorphic enzyme systems in the malaria vector, Anopheles culicifacies Giles. The data indicate that both enzymes, octanol dehydrogenase and acid phosphatase, are controlled by autosomal loci but that these two loci are not linked. The three expected linkage groups in this mosquito have now been identified: linkage group I contains sex and rose-eye; linkage group II contains Odh; and linkage group III contains Acph.

Acid Phosphatase↗

PubMed1975

Genetic analysis in the dinoflagellate (Crypthecodinium (Gyrodinium) cohnii: evidence for unusual meiosis.

The atypical structure and behavior of dinoflagellate chromosomes suggests that the genetics of these organisms might show comparable peculiarities. We have begun genetic analysis of the neritic, marine heterotroph Crypthecodinium (Gyrodinium) cohnii by means of motility mutants that show complementation shortly after zygote formation, permitting identification of heterozygotes. Six mutations, conferring four microscopically distinguishable phenotypes, have been isolated and investigated. These "genes" were found to complement in double heterozygotes in all pairwise combinations, indicating that the lesions are recessive and non-allelic. Clones of all possible combinations of these factors have been established and each complements only those combinations expected on the assumption that there are six independent recessive mutant "genes." Tetrad analysis following isolation of over 200 complementing zygotes showed: (1) regular segregation with recovery of parental phenotypes and genotypes; (2) independent assortment, with one possible exception; (3) segregations that were always 1:1, that is, in all tetrads showing recombination, only the two reciprocal recombinant genotypes were found; there were no tetratypes. This behavior could result from centromere linkage or the absence of crossing over in an otherwise conventional meiosis, or it could result from an unusual one-division "meiosis." Some evidence is provided that favors the latter hypothesis.

Animals↗

PubMed1977

Genetic analysis of the behavioral response to d-amphetamine in mice.

The ambulatory and rearing responses to d-amphetamine were studied in a battery of recombinant inbred strains and in three closely related strains: C57BL/6J, C57BL/10J, and C57BL/6By. Differences in the increase of ambulation (stimulation) caused by d-amphetamine were seen between C57BL/6By and the other two C57BL strains. Analysis of F1 and backcross matings suggests a one-gene model. A mutation at the genetic locus that affects the response to d-amphetamine seems to have taken place in the C57BL/6By strain. Strain differences in the decrease of rearing behavior (inhibition) produced by the drug were observed in recombinant inbred strains. Although the genetic analysis is not conclusive, it appears to be compatible with regulation by a single major gene. The two single-gene models reported here (one affecting the stimulatory response and the other the inhibitory response to d-amphetamine) may be useful in the study of neural mechanisms involved in stimulation and inhibition of behavior by d-amphetamine.

5-Hydroxytryptophan↗

PubMed1978

Genetic analysis of cell malignancy--evidence from somatic cell genetics.

When normal nontumorigenic cells are fused with tumorigenic cells some of the resulting hybrids are nontumorigenic in respect to their ability to grow in immune-deficient nude mice. Comparison of the chromosome content of nontumorigenic with tumorigenic hybrids, as well as with the cells of tumors which develop from the latter, reveals that in normal human x tumorigenic Chinese hamster hybrid crosses, two specific human chromosomes of the nontumorigenic parental line are very likely responsible for the suppressive effect. In some other hybrid crosses these and additional human chromosomes also seem to cause suppression. These findings suggest that a tumorigenic cell has lost at least two and possibly more gene functions which determine normal growth responses. The chromosomes from a normal cell can apparently correct these defects, although it is not yet clear if this is true genetic complementation or due to introduction of other genes which control cell growth or a cell's response to environmental growth regulatory stimuli. These findings led support to the view that genetic alterations are important in the process of malignant transformation and allow the development of a working hypothesis for the possible mechanisms involved. Some findings of other workers in this area also suggest that malignant cells may be producing some cell membrane proteins which are different from those of nontumorigenic cells. If this turns out to be true then it may ultimately be possible to develop immunotherapeutic procedures, i.e., to produce tumor cell specific antisera.

Animals↗

PubMed1976

Glucosamine resistance in yeast. I. A preliminary genetic analysis.

Mutants of the yeast Saccaromyces cerevisiae which can grow on glycerol medium in the presence of 0.05% D (+) glucosamine have been isolated. Genetic analysis of 13 of these glucosamine resistant (GR) mutants demonstrated two modes of inheritance. One group of mutants (GR 5, 6, 7, 8, 9 and 10) gave results characteristic of non-Mendelian inheritance and it is suggested that these mutants represent one or more new mitochondial loci. Four of the remaining mutants showed clear-cut Mendelian inheritance. These mutants fell into two complementation groups and subsequent mapping experiments demonstrated that two independent loci, gay 1 and gay 2, unlinked to each other or to the centromeres of chromosomes I, II, IV, VIII or IX, were responsible for conferring glucosamine resistance in these mutants.

Chromosome Mapping↗

PubMed1977

Genetic analysis of Escherichia coli O111:B4, a strain of medical and biochemical interest.

Procedures have been worked out which allow, for the first time, the genetic analysis of Escherichia coli O111:K58:H2 (O111:B4). The approximate map position of mutant loci was determined by mating with 15 Hfr strains of E. coli K-12. In addition, P1 transduction procedures were used for establishing relative gene order and linkage for any region of the E. coli O111:B4 chromosome. To obtain these, it was necessary to select for a rare P1 lysogen since E. coli O111:B4 is resistant to phage P1. Finally, genetic homology between E. coli strains K-12 and O111:B4 is suggested since they can form stable haploid hybrids, and several loci have similar map positions in the two strains.

Chromosome Mapping↗

PubMed1979

[Clinical, pathologica and genetic analysis of 53 cases of broncho-pulmonary cancer, still surviving after 5 years (author's transl)].

The authors take up again the clinical, pathological and genetic analysis of 53 bronchial cancers with a survival exceeding 5 years. The operation samples were reexamined; a H.L.A. grouping was done in every cases. On the whole, it concerned patients under 60 in good general condition; the extension of their lesions only required a limited exeresis (lobectomy). The epidermoid form predominates, the lymph node invasion is rare. Seventy four per cent of the patients carry at least one of the following antigens: W 19, A 10, B 5, BW 35. But the study did not prove the existence of a genetic factor conditioning the survival.

Bronchial Neoplasms↗

PubMed1976

Genetic analysis of mitochondrial biogenesis and function in Saccharomyces cerevisiae.

Different mitochondrial mutants have been isolated that affect mitochondrial ribosome function. These mutants were used to establish most of the known methods and principles of mitochondrial genetics in yeast. Another class of mitochondrial mutants have been shown to affect mitochondrial ATPase and, more specifically, the "membrane factor" of mitochondrial ATPase. These mutants might be very useful in studying the energy-conserving function, and the interaction between the hydrophobic and hydrophylic parts, of the ATPase complex. New types of mitochondrial point mutations, concerning cytochrome a-a3 or b, will soon open up new fields of investigation. The biochemical and genetic analysis of numerous mutants belonging to that category and recently obtained [31] is being currently pursued in Tzagoloff's and Slonimski's laboratories.

Adenosine Triphosphatases↗