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At least 415 records · Page 23Linked to original sources
PubMed2005

Genetic analysis of HIV by in situ PCR-directed laser capture microscopy of infected cells.

Behind the exponential expansion of the acquired immunodeficiency syndrome (AIDS) epidemic, there is a continuous and progressive molecular evolution of human immunodeficiency virus (HIV)-1. In this regard, the molecular analysis of viral strains infecting several anatomic compartments in humans has become critical to understanding AIDS-related pathologies and to improving emerging therapeutic protocols. Laser capture microdissection provides outstanding results in the genetic analysis of HIV-1 variants detectable in AIDS patients. The ability of the instrument to microdissect infected cells from a heterogeneous tissue compartment allows the investigator to obtain critical information regarding the genetic nature of a specific viral strain. To perform laser capture microdissection with better accuracy, a priori detection techniques may provide useful information about HIV distribution in the tissue specimen. An in situ polymerase chain reaction (PCR) assay on a serial slide results in a detailed map of the viral infection specific for the case under analysis. The knowledge of HIV distribution in the tissue section is critical for improving the dissection of infected cells by laser capture microscopy. This chapter describes laser capture microdissection and in situ PCR and its role in the analysis of the genetic nature of HIV-1 variants and quasispecies.

AIDS-Associated Nephropathy↗
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↗
PubMed1991

Genetic analysis in cystic fibrosis using the amplification refractory mutation system (ARMS): the J3.11 MspI polymorphism.

A new method of genetic analysis has been devised. The method, amplification refractory mutation system (ARMS), has been used to genotype the J3.11 MspI restriction fragment length polymorphism (RFLP) closely linked to cystic fibrosis (CF). The DNA sequence for both alleles of this dimorphism has been used to design ARMS primers. These allow genotyping of DNA isolated from blood, Guthrie cards, and buccal cells.

Alleles↗
PubMed1986

Use of chromosomally mapped and identified mouse brain proteins for behavioral genetic analysis of alcoholism.

A logical first place to look in order to identify loci determining behavioral differences between inbred and certain outbred strains of mice is among the proteins expressed in brain. Fourteen mouse brain proteins have been demonstrated to be genetically variant, four of these have been chromosomally mapped and an additional twelve have been identified and can be simultaneously screened by two dimensional electrophoresis. Certain genetic differences in behavior relevant to alcohol consumption and the effects of alcohol occur between inbred, recombinant inbred and selectively outbred strains. Two genetic correlations are reported, one between an isoelectric point variant of A7 (a 71 kd, pI 5.4 abundant protein) and resistance to signs of ethanol withdrawal and the other between A12 (a 28 kd, pI 5.6 protein) and ethanol intake. Though tentative, these findings illustrate the power of this approach for behavioral genetic analysis and may allow the biochemical genetic bases of these traits to be understood.

Alcoholism↗
PubMed2000

Genetic analysis of olfC demonstrates a role for the position-specific integrins in the olfactory system of Drosophila melanogaster.

Genetic analysis of olfC provides evidence for a role for integrins in the development and/or function of the olfactory system of Drosophila. The olfC gene was identified on the basis of mutations that result in specific defects in behavioural responses to acetate esters, and has been mapped to the cytogenetic interval 7D1;D5-6 on the X chromosome. The myospheroid (mys) gene maps to this region and encodes a beta subunit of integrins. Integrins are alpha(beta) heterodimers which are present on the cell surface and have been implicated in a variety of signalling roles. Mutations in mys fail to complement the olfactory deficits of olfC mutants. These defects can be rescued by misexpression of the mys+ gene under control of a hsp70 promoter. Mutations that affect the alpha subunit of the position-specific integrin PS2 show a dominant interaction with olfC. These results suggest that olfC is allelic to mys and functions together with alphaPS2 integrins in the olfactory pathway in Drosophila.

Acetates↗
PubMed1999

A quantitative genetic analysis of male sexual traits distinguishing the sibling species Drosophila simulans and D. sechellia.

A quantitative trait locus (QTL) genetic analysis of morphological and reproductive traits distinguishing the sibling species Drosophila simulans and D. sechellia was carried out in a backcross design, using 38 markers with an average spacing of 8.4 cM. The direction of QTL effects for the size of the posterior lobe was consistent across the identified QTL, indicating directional selection for this trait. Directional selection also appears to have acted on testis length, indicating that sexual selection may have influenced many reproductive traits, although other forms of directional selection cannot be ruled out. Sex comb tooth number exhibited high levels of variation both within and among isofemale lines and showed no evidence for directional selection and, therefore, may not have been involved in the early speciation process. A database search for genes associated with significant QTL revealed a set of candidate loci for posterior lobe shape and size, sex comb tooth number, testis length, tibia length, and hybrid male fertility. In particular, decapentaplegic (dpp), a gene known to influence the genital arch, was found to be associated with the largest LOD peak for posterior lobe shape and size.

Animals↗
PubMed1995

Genetic analysis of Drosophila neurons: Shal, Shaw, and Shab encode most embryonic potassium currents.

In this study, we perform the first genetic analysis of K+ currents in Drosophila embryonic neurons revealing the identity of the currents present. Unlike muscles, where the presence of Shaker is obvious, Shaker currents are not detectable in these neurons. In contrast, we show that Shal is as important in these neuronal cell bodies as Shaker is in muscles. Only three single-channel currents were found, all of which are genetically separable. Shal encodes a 4 pS transient channel. Whole-cell Shal currents have a wide variety of inactivation rates which, in contrast to a mechanism such as heteromultimer formation, is due to single Shal channels assuming different gating modes. Shaw encodes a 42 pS noninactivating channel distinctive for its extremely low voltage sensitivity; Shaw channels have a total equivalent gating charge of 0.90 e- charges, in sharp contrast to 7 e- reported for Shaker channels. An 11 pS slowly inactivating channel also present in these neurons may be encoded by the Shab gene. Thus, of four voltage-dependent K+ channel genes now cloned in Drosophila, all except Shaker appear to be expressed in the cell bodies of these neurons. It is only in Drosophila that a study such as this one can be done. Because Drosophila contains only a single member of each of the four subfamilies of K+ channel genes (unlike mammals), we can eliminate an entire subfamily with a mutation to a single gene. Here, we have examined the effect of eliminating each of three subfamilies. Such a task is presently impossible to accomplish in any mammalian system.

Animals↗
PubMed1994

Genetic analysis of DNA fingerprints and virulences in Erysiphe graminis f.sp. hordei.

A DNA probe, E9, which has been used extensively in population genetic studies of the barley powdery mildew pathogen, Erysiphe graminis f.sp. hordei, was shown to be homologous to dispersed sequences in the genome of this fungus. In a cross of the isolates CC52 and DH14, fragments with homology to E9 mapped to six clusters of loci. Avirulences matching five resistance genes in barley were controlled by single genes, in accordance with the gene-for-gene hypothesis, while avirulence matching a sixth resistance gene, Mla13, was controlled by two genes. A gene which controls the response to a fungicide, ethirimol, was not linked to any other gene. In all, seven linkage groups, comprising 22 loci, were detected. The results indicate that E9 can be used to identify members of a clone of E.g. f.sp. hordei, but should not be used for quantitative population genetic analysis.

Ascomycota↗
PubMed2006

Genetic analysis of Gitelman syndrome patients from the Czech Republic and Slovakia--three novel mutations found.

BACKGROUND: To investigate the genetic cause of inherited hypokalemic metabolic alkalosis associated with Gitelman's syndrome, we searched for mutations in the SLC12A3 gene (thiazide-sensitive NaCl cotransporter) among a set of patients from the Czech Republic and Slovakia. METHODS: We collected blood samples of patients from 16 families with characteristic clinical features. DNA was analyzed for mutation detection with SSCP and subsequent sequencing. Several mutations might be missed when only the SSCP method is applied, therefore direct sequencing of all the 26 exons became an essential tool. RESULTS: Genetic analysis revealed mainly missense mutations. Two novel mutations, c.480dupC (p.Pro160fsX97) and c.238dupCC (p. Pro79fsX35), caused a frameshift and preliminary stop codon appearance. Missense mutation c.790 G --> C (p.Gly264Arg) has never been reported before. Mutation c.1315G --> A (p.Gly439Ser) was frequent among our collection of unrelated patients (5 out of 16). Homozygous Gly439Ser was observed in a patient with chondrocalcinosis. CONCLUSION: We identified 13 different causative mutations in a cohort of Gitelman syndrome patients. Three of those mutations are novel. The occurrence of two mutation detections per individual corresponding to a recessive trait of inheritance was 62.5%. Gly439Ser is the most frequent type of mutation among our patients. Statistic evaluation of genotype/phenotype correlation could not be carried out.

Adolescent↗
PubMed2003

Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes.

Failure of the normal pattern of episodic secretion of GnRH from the hypothalamus results in the clinical syndrome of idiopathic hypogonadotropic hypogonadism (IHH), with failure of pubertal development and infertility. The only gene that has been implicated in normosmic IHH is the GnRH receptor gene (GNRHR), which accounts for 10% of cases. This report presents four families with autosomal recessive IHH, including a consanguineous pedigree from the Middle East. Defects within the genomic coding sequence of the GNRHR, and the GnRH gene itself, GNRH1, were excluded by temperature gradient gel electrophoresis, direct sequencing, and haplotypes created from simple sequence polymorphisms flanking the GNRH1 and GNRHR loci. We concluded that: 1) genetic analysis has excluded sequence variations in GNRH1 and GNRHR in four families with recessive IHH, suggesting the existence of a novel, as-yet-undiscovered gene for this condition, and 2) because mutation analysis of genomic coding sequence will fail to detect mutations deep within introns or regulatory regions, haplotype analysis is the preferred genetic methodology to eliminate the role of specific candidate genes.

Adolescent↗
PubMed2002

Genetic analysis of Group A rotaviruses: evidence for interspecies transmission of rotavirus genes.

Rotaviruses are the major cause of severe gastroenteritis in young children and animals. The rotavirus genome is composed of eleven segments of double-stranded RNA and can undergo genetic reassortment during mixed infections, leading to progeny viruses with novel or atypical phenotypes. There are numerous descriptions of rotavirus strains isolated from human and animals that share genetic and antigenic features of viruses from heterologous species. In many cases, genetic analysis by hybridization has clearly demonstrated the genetic relatedness of gene segments to those from viruses isolated from different species. Together with the observation that some virus strains appear to have been transmitted to a different species as a whole genome constellation, these data suggest that interspecies transmission occurs naturally, albeit at low frequencies. Although interspecies transmission has not been documented directly, there is an increasing number of reports of atypical rotaviruses that are apparently derived from transmission between: humans, cats and dogs; humans and cattle; humans and pigs; pigs and cattle; and pigs and horses. Interspecies evolutionary relationships are supported by phylogenetic analysis of rotavirus genes from different species. The emergence of novel strains derived from interspecies transmission has implications for the design and implementation of successful human rotavirus vaccine strategies.

Animals↗
PubMed2003

Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p.

The ability to taste phenylthiocarbamide (PTC) shows complex inheritance in humans. We obtained a quantitative measure of PTC tasting ability in 267 members of 26 large three-generation families that were part of a set of CEPH families that had been used for genetic mapping. Significant bimodality was found for the distribution of age and gender adjusted scores (P<0.001), with estimated means of 3.16 (SD=1.80) and 9.26 (SD=1.54). Using the extensive genotyping available in these families from the genetic mapping efforts, we performed a genome scan by using 1324 markers with an average spacing of 4 cM. Analyses were first carried out with a recessive genetic model that has traditionally been assumed for the trait, and a threshold score of 8.0 delineating tasters from non-tasters. In this qualitative analysis, the maximum genome-wide lod score was 4.74 at 246 cM on chromosome 7; 17 families showed segregation of the dichotomous PTC phenotype. No other lod scores were significant; the next highest score was on chromosome 10 (lod=1.64 at 85 cM), followed by chromosome 3 (lod=1.29 at 267 cM). Because PTC taste ability exhibited substantial quantitative variation, the quantitative trait was also analyzed by using a variance components approach in SOLAR. The maximum quantitative genome-wide lod score was 8.85 at 246 cM on chromosome 7. Evidence for other possible quantitative loci was found on chromosomes 1 (lod=2.31 at 344 cM) and 16 (lod=2.01 at 14 cM). A subsequent two-locus whole-genome scan conditional on the chromosome 7 quantitative trait locus identified the chromosome 16 locus (two-locus lod=3.33 at 14 cM).

Adolescent↗
PubMed1999

Genetic analysis of metabolic polymorphisms in molecular epidemiological studies: social and ethical implications.

The use of genetic biomarkers in epidemiological studies raises specific social and ethical issues related to the selection of molecular markers and methods of analysis, obtaining participation, the storage of biological samples and their linkage with individual data, the disclosure of information and the publication of results. Several of these issues are similar to those associated with the use of any type of biomarker in epidemiology. Other problems are specifically related to the use of genetic material and the perception that genetic information raises special concerns regarding privacy, risk of abuse and psychosocial impact in this chapter we define how genetic studies performed in the context of molecular epidemiological studies (genetic analysis) differ from genetic screening or genetic testing conducted in a clinical or public health context We then examine the ethical implications of this distinction and describe how general ethical principles may apply to genetic analysis in the area of molecular epidemiology. In particular we discuss specific questions such as those of obtaining participation, working with archival samples and communicating results. We advocate an approach whereby ethical issues are tackled as an intrinsic part of study design; this requires broad discussion with all the parties involved.

Biomarkers↗
PubMed2000

[Molecular-genetic analysis of VNTR polymorphism in alleles of the phenylalanine hydroxylase gene in inhabitants of the Volga-Urals region].

Molecular genetic analysis of the VNTR alleles at the phenylalanine hydroxylase (PAH) gene was carried out in seven Volga-Ural ethnic groups (Bashkirs, Tatars, Chuvashes, Maris, Mordovians, Udmurts, and Komis). The PCR fragments revealed included alleles of 380, 440, 470, 500, 530, 560, and 650 bp, containing 3, 5, 6, 7, 8, 9, and 12 repeat copies, respectively. Substantial heterogeneity of the populations in respect to the distribution and frequency of the VNTR alleles and genotypes was demonstrated. The indices of observed and theoretical heterozygosity of the PAH VNTR alleles were calculated. The mean heterozygosity index was 70.02%. This high index value along with the established differentiation of the populations in respect to the frequency distribution of the VNTR alleles and PAH genotypes permitted the conclusion that the given polymorphic locus can serve as a highly informative marker for examination of the genetic structure of the Volga-Ural populations.

Alleles↗
PubMed2003

Genetic analysis of a synaptic calcium channel in Drosophila: intragenic modifiers of a temperature-sensitive paralytic mutant of cacophony.

Our previous genetic analysis of synaptic mechanisms in Drosophila identified a temperature-sensitive paralytic mutant of the voltage-gated calcium channel alpha1 subunit gene, cacophony (cac). Electrophysiological studies in this mutant, designated cac(TS2), indicated cac encodes a primary calcium channel alpha1 subunit functioning in neurotransmitter release. To further examine the functions and interactions of cac-encoded calcium channels, a genetic screen was performed to isolate new mutations that modify the cac(TS2) paralytic phenotype. The screen recovered 10 mutations that enhance or suppress cac(TS2), including second-site mutations in cac (intragenic modifiers) as well as mutations mapping to other genes (extragenic modifiers). Here we report molecular characterization of three intragenic modifiers and examine the consequences of these mutations for temperature-sensitive behavior, synaptic function, and processing of cac pre-mRNAs. These mutations may further define the structural basis of calcium channel alpha1 subunit function in neurotransmitter release.

Animals↗
PubMed1993

Methods and applications of genetic analysis in the study of cardiovascular disease: a summary of contributions to GAW8.

The analyses of data provided for the cardiovascular disease section of Genetic Analysis Workshop 8 are briefly summarized. Methods using twin, segregation, and linkage analyses are used to determine, characterize, and localize genetic components involved in the etiology of cardiovascular disease and to explore the interaction of these components with known environmental risk factors.

Cardiovascular Diseases↗
PubMed2006

Diagnostic detection and genetic analysis of wheat stripe rust resistant gene YrCN19.

DNA samples of 19 wheat cultivars or lines were screened with the primer pair Xgwm410, a diagnostic marker of wheat stripe rust resistant gene YrCN19. The results showed that the wheat cultivars or lines CN19, XK5, AIM5 and AIM6 produced the amplicon Xgwm410/391, which co-segregated with the resistance of YrCN19, but other cultivars or lines did not produced it. Pedigree analysis and resistance test showed that CN19, XK5, AIM5 and AIM6 carried wheat stripe rust gene YrCN19. Genetic analysis proved that the resistance to wheat stripe rust of CN19, XK5, and AIM5 inherited in single dominant gene genetic law (3 resistant: 1 susceptible). The results also proved that the resistance descent in the cross combination Yanfu188/AIM6 complied with the single dominant gene genetic law (3 resistant: 1 susceptible), while the resistance inheritance in other cross combinations (CN18/AIM6, Lu955159/AIM6 and Shu3110/ AIM6) complied with two gene complementary genetic law (9 resistant: 7 susceptible). The results suggested that the resistance expression and separation of YrCN19 was distinct in the various genetic backgrounds or cross combinations. This study would expedite the exploitation and utilization of YrCN19 in wheat resistant breeding.

Basidiomycota↗
PubMed2005

Genetic analysis of influenza virus NS1 gene: a temperature-sensitive mutant shows defective formation of virus particles.

To perform a genetic analysis of the influenza A virus NS1 gene, a library of NS1 mutants was generated by PCR-mediated mutagenesis. A collection of mutant ribonucleic proteins containing the nonstructural genes was generated from the library that were rescued for an infectious virus mutant library by a novel RNP competition virus rescue procedure. Several temperature-sensitive (ts) mutant viruses were obtained by screening of the mutant library, and the sequences of their NS1 genes were determined. Most of the mutations identified led to amino acid exchanges and concentrated in the N-terminal region of the protein, but some of them occurred in the C-terminal region. Mutant 11C contained three mutations that led to amino acid exchanges, V18A, R44K, and S195P, all of which were required for the ts phenotype, and was characterized further. Several steps in the infection were slightly altered: (i) M1, M2, NS1, and neuraminidase (NA) accumulations were reduced and (ii) NS1 protein was retained in the nucleus in a temperature-independent manner, but these modifications could not justify the strong virus titer reduction at restrictive temperature. The most dramatic phenotype was the almost complete absence of virus particles in the culture medium, in spite of normal accumulation and nucleocytoplasmic export of virus RNPs. The function affected in the 11C mutant was required late in the infection, as documented by shift-up and shift-down experiments. The defect in virion production was not due to reduced NA expression, as virus yield could not be rescued by exogenous neuraminidase treatment. All together, the analysis of 11C mutant phenotype may indicate a role for NS1 protein in a late event in virus morphogenesis.

Amino Acid Sequence↗