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PubMed1990

Genetic analysis of the enhancer requirements for polyomavirus DNA replication in mice.

In this report, we describe the first systematic analysis of the genetic requirements for polyomavirus (Py) enhancer-activated viral DNA replication during the acute phase of infection in mice. Four mutants were made which substituted XhoI sites for conserved enhancer consensus sequences (adenovirus type 5 E1A, c-fos, simian virus 40, and a glucocorticoidlike consensus sequence). Viral DNA replication in infected mouse organs was measured by DNA blot analysis. Only the loss of the glucocorticoidlike consensus sequence element significantly reduced Py DNA replication in the kidneys, the primary target organ for viral replication. The loss of the c-fos, adenovirus type 5 E1A, or simian virus 40 consensus sequences, however, expanded organ-specific viral DNA replication, relative to wild-type Py, by allowing high-level replication in the pancreas or heart or both. Analysis of Py variants selected for replication in undifferentiated embryonal carcinoma cell lines (PyF441, PyF111) showed that there was little change in levels of viral DNA replication in kidneys and other organs as compared with those in the wild-type virus. If the entire B enhancer is deleted, only low overall levels of viral replication are observed. Wild-type levels of replication in the kidneys can be reconstituted by addition of a single domain from within the A enhancer (nucleotides 5094 to 5132) to the B enhancer deletion virus, suggesting that a single domain from the A enhancer can functionally substitute for the entire B enhancer. This also indicates that the determinants for kidney-specific replication are not found in the B enhancer.

Animals↗
PubMed1998

Chromosomal mosaicism in cleavage-stage human embryos and the accuracy of single-cell genetic analysis.

PURPOSE: Our purpose was to assess the effect of chromosomal mosaicism in cleavage-stage human embryos on the accuracy of single-cell analysis for preimplantation genetic diagnosis. METHODS: Multicolor fluorescence in situ hybridization with X, Y, and 7 or X, Y, 7, and 18 chromosome-specific probes was used to detect aneuploidy in cleavage-stage human embryos. RESULTS: Most nuclei were diploid for the chromosomes tested but there was extensive mosaicism including monosomic, double-monosomic, nullisomic, chaotic, and haploid nuclei. CONCLUSIONS: Identification of sex by analysis of a single cleavage-stage nucleus is accurate but 7% of females are not identified. One or both parental chromosomes 7 were absent in at least 6.5% of the nuclei. With autosomal recessive conditions such as cystic fibrosis, carriers would be misdiagnosed as normal or affected. With autosomal dominant conditions, failure to analyze the affected parents allele (1.6-2.5%) would cause a serious misdiagnosis and analysis of at least two nuclei is necessary to reduce errors.

Chromosome Aberrations↗
PubMed1991

Asymmetric PCR-based strategy for genetic analysis of the p53 tumor suppressor gene in cell lines and tumor tissues.

A novel strategy for genetic analysis of the p53 tumor suppressor gene is described, based on direct sequencing of the asymmetric polymerase chain reaction (PCR) products. A set of 10 PCR primers was designed which allows to amplify and sequence highly conserved regions of the molecule, i.e. the target areas of p53 mutations. The stepwise optimization of RNA isolation, cDNA synthesis, PCR amplifications and sequencing resulted in a procedure which is faster and more reliable than the techniques used to search for p53 mutations so far. This and similar strategies should be applicable to the study of genetic alterations in antioncogenes or other classes of genes which suffer from subtle mutations potentially scattered along large segments of the molecule.

Base Sequence↗
PubMed2003

Genetic analysis of maximum cigarette-use phenotypes.

BACKGROUND: Using the Framingham Heart Study data set provided for Genetic Analysis Workshop 13, we defined the cigarette-use phenotype M for smokers to be the maximum number of cigarettes-per-day (MAXCIG) reported over the longitudinal course of the study. Adjustments were made for the significant covariates of gender and year of birth, and sib-pair based linkage analysis was performed. RESULTS: The primary analyses, in which individuals with MAXCIG = 0 were considered to have missing phenotype, resulted in modest linkage evidence, with LOD scores over 1 on chromosomes 5, 9, 13, 14, and 22. CONCLUSIONS: While the results reported here do not indicate definitive evidence for linkage to specific chromosomal regions, future studies may find it useful to include direct assessments of maximum and quantitative cigarette use. In defining and analyzing quantitative or "maximum use" phenotypes, the choice of how to handle individuals with MAXCIG = 0, or alternatively, individuals who are substance-naive, is a crucial one for genetic studies of nicotine and other substance use. In this study, the linkage results vary greatly depending on whether or not these "unexposed" individuals are included in the analyses.

Adult Children↗
PubMed2004

Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.

PURPOSE: In families with idiopathic generalized epilepsy (IGE), multiple IGE subsyndromes may occur. We performed a genetic study of IGE families to clarify the genetic relation of the IGE subsyndromes and to improve understanding of the mode(s) of inheritance. METHODS: Clinical and genealogic data were obtained on probands with IGE and family members with a history of seizures. Families were grouped according to the probands' IGE subsyndrome: childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and IGE with tonic-clonic seizures only (IGE-TCS). The subsyndromes in the relatives were analyzed. Mutations in genes encoding alpha1 and gamma 2 gamma-aminobutyric acid (GABA)-receptor subunits, alpha1 and beta1 sodium channel subunits, and the chloride channel CLC-2 were sought. RESULTS: Fifty-five families were studied. 122 (13%) of 937 first- and second-degree relatives had seizures. Phenotypic concordance within families of CAE and JME probands was 28 and 27%, respectively. JAE and IGE-TCS families had a much lower concordance (10 and 13%), and in the JAE group, 31% of relatives had CAE. JME was rare among affected relatives of CAE and JAE probands and vice versa. Mothers were more frequently affected than fathers. No GABA-receptor or sodium or chloride channel gene mutations were identified. CONCLUSIONS: The clinical genetic analysis of this set of families suggests that CAE and JAE share a close genetic relation, whereas JME is a more distinct entity. Febrile seizures and epilepsy with unclassified tonic-clonic seizures were frequent in affected relatives of all IGE individuals, perhaps representing a nonspecific susceptibility to seizures. A maternal effect also was seen. Our findings are consistent with an oligogenic model of inheritance.

Adolescent↗
PubMed2002

Technical challenges in applying capillary electrophoresis-single strand conformation polymorphism for routine genetic analysis.

Recent and future advances in population genetics will have a significant impact on health care practices and the economics of health care provision only if a spectrum of patient-tailored, effective methods of DNA screening for sequence alterations has been developed. Genetic screening by capillary electrophoresis-single strand conformation polymorphism (CE-SSCP), which is based upon the differences in electrophoretic mobilities of wild-type and mutant DNA species, offers an important complement to other presently available techniques such as Sanger sequencing and DNA hybridization arrays due to its simplicity, versatility, and low cost of analysis. A two-part review of CE-SSCP that discusses its advantages and limitations is presented. Emphasis is placed on technological aspects of CE-SSCP (including such rarely addressed issues as sample preparation protocols and the nature of the polymeric DNA separation matrix) as well as on the potential of CE-SSCP for routine genetic analysis. An attempt is made to organize and present the information in sufficient detail to allow the use of SSCP for routine genetic screening even by those inexperienced in CE. Some discussion of CE-based heteroduplex analysis (HA) is also presented.

DNA↗
PubMed1997

Molecular genetic analysis of type-4 pilus biogenesis and twitching motility using Pseudomonas aeruginosa as a model system--a review.

Genetic analysis of Pseudomonas aeruginosa pilus biogenesis and twitching motility has revealed the requirement for several pil loci which have been localized to different regions of the chromosome. One pil locus, designated pilE, resides at approx. 71 min on the PAO genetic map, a region of the chromosome previously shown to harbor a number of genes required for pilus assembly (i.e., pilA, -B, -C, -D, -R and -S). The PilE protein shows significant sequence identity to the N-terminal domain of PilA as well as to the pilin precursors from a variety of type-4 pilus producers. Included within this homologous region is a short, positively charged leader sequence followed by a prepilin peptidase cleavage site and a largely hydrophobic region. Additionally, an unlinked set of pil genes, designated pilG, -H, -I, -J and -K, has been localized to the SpeI fragment H which corresponds to approx. 20 min on the PAO genetic map. This gene cluster encodes proteins that demonstrate remarkable similarity to the chemotaxis proteins of enterics and the gliding bacterium Myxococcus xanthus and are thought to be part of a signal transduction system that controls P. aeruginosa pilus biosynthesis and twitching motility.

Bacterial Outer Membrane Proteins↗
PubMed2000

Genetic analysis of plant morphogenesis in vitro.

Plant morphogenesis in vitro such as somatic embryogenesis and adventitious organogenesis has provided useful systems for physiological, biochemical, and molecular biological studies on plant development. Advantages of the in vitro systems are currently being combined with genetic techniques to generate new insights into fundamental mechanisms of plant development. This article presents an overview of genetic analysis of plant morphogenesis in vitro including genetic variation of tissue culture responses, mutational analysis of somatic embryogenesis, and mutational analysis of adventitious organogenesis.

Cells, Cultured↗
PubMed1965

GENETIC ANALYSIS OF TRYPTOPHANASE MUTANTS OF ESCHERICHIA COLI.

Gartner, Theodore K. (University of California, Davis), and Monica Riley. Genetic analysis of tryptophanase mutants of Escherichia coli. J. Bacteriol. 89:319-325. 1965.-The tryptophanase structural gene tna, and one of the tryptophanase regulation genes, R(1)tna, are closely linked, and lie between the pyr-E and ilv genes on the Escherichia coli chromosome. The mutant form of the regulation gene, which confers the properties of inducibility at 13 C, constitutivity at 37 C, and hyperinducibility at 37 C, is dominant over the wild form of the gene. Another regulation gene, R(2)tna, confers constitutivity at 13 C and does not map at the same locus as the R(2)tna gene.

Escherichia coli↗
PubMed1999

Glycosylase mediated polymorphism detection (GMPD)--a novel process for genetic analysis.

A process for mutation and polymorphism detection is described here that offers significant advances over current mutation detection systems and that has the potential to significantly enhance molecular genetic analysis of human disease. This novel process is referred to as glycosylase mediated polymorphism detection (GMPD) and exploits the use of highly specific DNA glycosylase enzymes to excise substrate bases incorporated into amplified DNA. Action of the glycosylase leaves the DNA with one or more specific abasic sites which can be cleaved by enzymatic or chemical means. The GMPD process permits detection of polymorphisms and mutations using fragment size analysis or solid phase formats. GMPD is particularly suitable for genotyping of single nucleotide polymorphism (SNP) based markers and also permits efficient scanning of genes for unknown polymorphisms and mutations.

DNA Mutational Analysis↗
PubMed1997

Genetic analysis of inflammation, cytokine mRNA expression and disease course of relapsing experimental autoimmune encephalomyelitis in DA rats.

Genetic analysis of experimental autoimmune encephalomyelitis (EAE) can provide clues to the etiology of multiple sclerosis (MS). Identifying the susceptibility genes of DA rats may be particularly rewarding since they are prone to develop a remarkably MS-like chronic and demyelinating disease. As a first step in this direction, we investigated the role of DA genes within and outside the major histocompatibility complex (MHC) for susceptibility to severe protracted and relapsing EAE (SPR-EAE). This form of EAE developed in DA rats but not in LEW. ACI and BN rats after immunization with syngeneic spinal cord and complete Freund's adjuvant. Studies of crosses between DA and BN rats revealed that non-MHC genes determine susceptibility to SPR-EAE. A role for MHC-genes was also established using MHC-congenic rat strains, in which the DA MHC haplotype (av1) associated with relapsing EAE. Again, non-MHC genes were decisive since a high incidence of SPR-EAE only occurred in rats with DA non-MHC genes. Analysis of cytokine mRNA expression and infiltrating cells in the spinal cords of congenic strains revealed that the av1 haplotype associated with a high CD4/CD8 ratio and expression of mRNA for interferon-gamma (IFN-gamma), but not for transforming growth factor-beta (TGF-beta) or interleukin-10 (IL-10). In contrast, the other MHC haplotypes (h, l, u) associated with low CD4/CD8 ratios and mRNA expression for TGF-beta and IL-10, but not for IFN-gamma. DA non-MHC genes determined the intensity of inflammation since the number of cells expressing MHC class II, CD4 and interleukin-2 receptor (IL-2R) was higher in DA rats than in LEW.1AV1 and PVG.1AV1 rats which also carry the av1 haplotype. We conclude that the MHC haplotype of DA rats favors a prolonged proinflammatory autoimmune response associated with relapses, while the DA background intensifies inflammation correlating with a high incidence of relapsing disease.

Animals↗
PubMed1985

Genetic analysis of fusion recombinants and presence of noncomplementing diploids in Bacillus megaterium.

We have attempted to undertake genetic analysis in Bacillus megaterium using the technique of protoplast fusion that has been successfully applied in Staphylococcus and Streptomyces. Efficient production of protoplasts, fusion and regeneration techniques have been established. However, variability in numbers and types of recombinants using two-, three-, and four-factor crosses was observed throughout these studies. No linkages were detected, even between loci known to be linked by cotransduction with bacteriophage MP13. These results were similar to those reported by Alföldi and coworkers using B. megaterium strain 216, even though the experimental design was significantly changed. During initial subculturing, segregants were observed in a 1:2:2 ratio of noncomplementing diploids:parental-1:parental-2. The ratio changed dramatically after seven subcultures. Double recombinants appeared after nine subcultures. These results corroborate those reported in B. subtilis and suggest that there is a locus-inactivation phenomenon present in Bacillus which is not evident in Streptomyces or Staphylococcus. Until the mechanism is elucidated, protoplast fusion should not be used for chromosomal mapping in B. megaterium. However, it can be used to transfer plasmids among the bacilli at a frequency of 10(-5)-10(-6) per regenerated protoplast.

Bacillus megaterium↗
PubMed1998

Multivariate behavioral genetic analysis of achievement and cognitive measures in reading-disabled and control twin pairs.

In recent years behavioral genetic studies have provided conclusive evidence that reading disability and related learning disorders, such as mathematics disability, are due at least in part to heritable factors (DeFries et al. 1987; Alarcón et al. 1997). Although the observed relationship between performance in these areas also may be due substantially to genetic influences (Light and DeFries 1995; Thompson et al. 1991), relatively few studies have examined the genetic and environmental etiology of this covariation in a multivariate framework. In the present study data from 196 identical (monozygotic; MZ) and 155 same-sex fraternal (dizygotic; DZ) twin pairs in which at least one member of each pair evidenced reading problems in school (reading disabled) were subjected to a multivariate behavioral genetic analysis. Structural equation models were fitted to twin data for verbal IQ (VIQ), phonological decoding ability (PHON), reading performance (READ), and mathematics performance (MATH) to assess the extent to which VIQ and PHON mediate the observed covariation between READ and MATH. Results suggest that VIQ and PHON account for most of the covariation between READ and MATH. Moreover, approximately 82% of the observed correlation between READ and MATH was due to genetic factors that also influence VIQ and PHON. When data from 132 MZ and 91 same-sex DZ control twin pairs in which neither twin had a history of reading problems were subjected to the same analyses, the covariation between READ and MATH was found to be due to both genetic and shared environmental influences. Thus genetic factors that influence VIQ and PHON also contribute to the observed covariation between READ and MATH in both a reading-disabled and a control twin sample.

Achievement↗
PubMed2002

A multistate model for the genetic analysis of the ageing process.

In this paper a multivariate frailty model is suggested that can be used in the genetic analysis of the ageing process as a whole, simplified to consisting of the states 'healthy', 'disabled' and 'deceased'. The model allows us to evaluate simultaneously the relative magnitude of genetic and environmental influences on frailty variables corresponding to the period of good health and to the life span. The frailty variables can be interpreted as susceptibility to illness or death. The model can be applied to data on groups of related individuals (twins, siblings, a litter). One of the major advantages of this model is that it allows one to include groups of individuals where some or all members of the group are already deceased at the time of observation. The current health status of the living individuals and the exact life span of individuals who are already deceased is the only information necessary for the application of the model. Questions concerning the identifiability of the model based on current health status data and estimation strategies are discussed in the context of specifying the model for twins. Finally, the results of a sample analysis of twin data on prostate cancer are presented.

Aged↗
PubMed1986

Craniofrontonasal dysplasia: clinical and genetic analysis.

We have identified a case of craniofrontonasal dysplasia which demonstrates the potential lethality of this gene. Genetic analysis of this pedigree and nine others reveals that craniofrontonasal dysplasia does not follow a Mendelian mode of inheritance and may be a human mutation analogous to the T-locus of mice.

Abnormalities, Multiple↗
PubMed1996

Genetic analysis of Laminin A in Drosophila: extracellular matrix containing laminin A is required for ocellar axon pathfinding.

Genetic analysis of the Laminin A (LamA) gene in Drosophila reveals that distinct classes of sensory axons have different requirements for extracellular matrix (ECM) containing laminin A versus epithelial cell surfaces. In the eye-antenna imaginal disc, the nerve from the three simple eyes (ocelli) to the brain is pioneered by a population of transient ocellar neurons whose axons extend on an ECM that covers and connects the disc epithelium and brain. Axons from neighboring mechanosensory (bristle) neurons extend under the ECM in direct contact with the surface of the disc cells, and pioneer a different axon pathway that enters the brain in a different location. In LamA mutants, the ocellar pioneer axons display striking pathfinding defects, while neighboring bristle axons appear normal; the ocellar pioneers usually extend in the proper direction, adhering to the epithelium and sometimes fasciculating with mechanosensory axons, but they invariably fail to reach the brain.

Animals↗
PubMed1993

[Molecular genetic analysis of sporadic Alzheimer's disease].

The authors report the clinical findings and the results of molecular genetic analysis of 8 patients with sporadic Alzheimer's disease. Differential diagnosis was carried out on the basis of familial history, laboratory data, brain imaging analysis using CT, MRI and SPECT. According to the clinical stage criteria made by Cummings and Benson, 6 cases were in stage 1 and the remaining 2 in stage 2. Recently, it was reported that affected members from 6 Japanese kindreds with familial Alzheimer's disease (FAD) had missense mutation in exon 17 of the gene for beta/A4 amyloid precursor protein (APP). Amino acid substitution (Val-Ile) at codon 717 by this mutation was considered to be responsible for FAD in these kindreds. We used genomic DNA from 8 sporadic cases to determine whether the disease in these families is associated with an APP 717 mutation and the mutated codons, 102, 117, 129, 178, and 200, on the gene for proteinase-resistant prion protein (Prp) which causes transmissible dementia, Creuzfelt-Jacob disease (CJD) and Gerstmann-Sträussler syndrome (GSS). The results showed that there were no mutations on these genes in 8 patients. It would be necessary to analyze DNA from patient with sporadic Alzheimer's disease to examine the mutations found in the APP gene and Prp gene of heredity Alzheimer's disease patients.

Aged↗
PubMed2002

[Genetic analysis on restorer genes of D2-type CMS lines of common wheat].

On the basis of genetic characters of D2-type CMS lines, restorer lines Yi4060, M8003, 6D/6R, GR1, 960789, Bao769-22-1 et al. were gained from crossing selection. The results of genetic analysis of F2, F1BC1 population and allelic analysis of restorer genes, successive selection of self fertility from F1 showed that fertility restoration of these restorer lines was controlled by two pair independent major-genes(dominant) and different-dosage minor genes. Authors proposed that the two pair independent major-genes should be designated as D2Rf1 D2Rf1, D2Rf2 D2Rf2. The model C2(major genes + minor genes) should be first selected in breeding restorer line.

Genes, Plant↗