Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012872 (DNA marker)
 929 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This work presents a neutral filter elution method for detecting DNA double strand breaks in mouse L1210 cells after X-ray. The assay will detect the number of double strand breaks induced by as little as 1000 rad of X-ray. The rate of DNA elution through the filters under neutral conditions increases with X-ray dose. Certain conditions for deproteinization, pH, and filter type are shown to increase the assay's sensitivity. Hydrogen peroxide and Bleomycin also induce apparent DNA double strand breaks, although the ratios of double to single strand breaks vary from those produced by X-ray. The introduction of double strand cuts by HpA I restriction endonuclease in DNA lysed on filters results in a rapid rate of elution under neutral conditions, implying that the method can detect double strand breaks if they exist in the DNA. The eluted DNA bands with a double stranded DNA marker in cesium chloride. This evidence suggests that the assay detects DNA double strand breaks. L1210 cells are shown to rejoin most of the DNA double strand breaks induced by 5-10 krad of X-ray with a half-time of about 40 minutes.
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PMID:X-ray induced DNA double strand break production and repair in mammalian cells as measured by neutral filter elution. 9 10

DNA isolated from highly purified virions of herpes simplex virus type-1 (HF strain) was denatured by centrifugation in alkaline sucrose gradients. DNA molecules corresponding to intact single-stranded virion DNA (50 x 10(6) daltons) were isolated and adjusted to neutral pH. The DNA was annealed under conditions permitting reassociation of intact single-stranded molecules and studied by electron microscopy. Three classes of DNA molecules showing double-stranded sequences were observed: (a) fully double-stranded DNA molecules the size of the intact HSV DNA genome, namely 52 micron; (b) DNA hybrids with a region of partial double-strandedness ranging from 5 to 12 micron, plus long single strands; and (c) DNA hybrids with a double-stranded region of 32--40 micron, plus short single strands. (These results suggest that the alkali-resistant single-stranded HSV DNA molecules are composed of several subclasses that permit annealing of either the total genome or the S or L components.) The 5 micron double-stranded region probably constitutes the S component of HSV DNA and the sequences longer than 5 micron and shorter than 12 micron represent annealing of the repeat sequences on either or both sides of the S component. The double-stranded sequences with a length of 32--40 micron may represent the L component. Treatment of the annealed, partially double-stranded hybrid DNA molecules with S1 endonuclease to remove the single-stranded termini and centrifugation in neutral sucrose gradients yielded two distinct peaks. Centrifugation of fractions from the two peaks in caesium chloride density gradients showed that the small DNA component (possibly the S and the repeat sequences) had a higher buoyant density and the longer (possibly the L) DNA component had a lower density than the HSV DNA marker. Annealing of alkali-resistant viral DNA strands therefore provides a means of isolating the L, S and repeat sequence regions of HSV DNA.
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PMID:Annealing of alkali-resistant HSV DNA strands and isolation of S and L components. 22 26

Properties of type 7 adenovirions in lysosomes of HeLa cells were studied 12 hr postinfection. Viral particles were transferred to the lysosomes very quickly after initiation of penetration, i.e., after 10 min of incubation at 37 degrees. No morphological modification of the virion was detected for 6 hr postinfection. However, by 12 hr postinfection, the virion was no longer recognizable. Most of the virus remained infectious for 2 hr, whereas after 12 hr the infectivity was abolished. Soon after the adsorption of the virus on the cell membrane at 4 degrees, the viral DNA in the virion became sensitive to pancreatic DNase, and this sensitivity increased during the first 2 hr of incubation at 37 degrees. This result suggests that some modification in the architecture of the virion occurred before transfer to the lysosomes. The adenovirus 7 (Ad 7) DNA extracted from the lysosomes appeared intact for 6 hr postinfection and was found to cosediment at 34 S with the Ad 2 DNA marker. Comparable activities of free acid phosphatase were found in lysosomes isolated from uninfected control cells and from infected cells. In in vitro experiments, lysosomal acid DNase and pancreatic DNase were shown to degrade Ad 7 DNA at similar rates; however, in vivo, intralysosomal Ad 7 DNA was only partially sensitive to lysosomal DNase.
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PMID:The fate of type 7 adenovirions in lysosomes of HeLa cells. 84 71

The defect causing Huntington disease (HD) has been mapped to 4p16.3, distal to the DNA marker D4S10. Subsequently, additional polymorphic markers closer to the HD gene have been isolated, which has led to the establishment of predictive testing programs for individuals at risk for HD. Approximately 17% of persons presenting to the Canadian collaborative study for predictive testing for HD have not received any modification of risk, in part because of limited informativeness of currently available DNA markers. Therefore, more highly polymorphic DNA markers are needed, which will further increase the accuracy and availability of predictive testing, specifically for families with complex or incomplete pedigree structures. In addition, new markers are urgently needed in order to refine the breakpoints in the few known recombinant HD chromosomes, which could allow a more accurate localization of the HD gene within 4p16.3 and, therefore, accelerate the cloning of the disease gene. In this study we present the identification and characterization of nine new polymorphic DNA markers, including three markers which detect highly informative multiallelic VNTR-like polymorphisms with PIC values of up to .84. These markers have been isolated from a cloned region of DNA which has been previously mapped approximately 1,000 kb from the 4p telomere.
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PMID:Isolation and characterization of new highly polymorphic DNA markers from the Huntington disease region. 134 82

A yeast artificial chromosome library with mouse genomic DNA inserts has been constructed. The library encompasses a 2.5-fold coverage of the mouse genome, with an average insert size of 250 kilobases. The screening strategy uses the polymerase chain reaction on pooled DNAs prepared from individually stored clones. The usefulness of the library for chromosome walking was illustrated by constructing a 600-kilobase-long contig of DNA surrounding Hba-ps4, a DNA marker that is tightly linked to the fused (Fu) locus on chromosome 17.
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PMID:Genomic analysis using a yeast artificial chromosome library with mouse DNA inserts. 134 50

DNA sequence analysis of the polymerase chain reaction products, including the coding region for amino acids 416 and 420, of the vitamin-D-binding protein (DBP, group-specific component, GC) shows allele-specific differences. The GC2 and GC1F phenotypes have an aspartic acid residue at amino acid position 416, whereas the GC1S phenotype has a glutamic acid at this position. In the GC2 phenotype, amino acid 420 is a lysine residue, and in the both common GC1 phenotypes, it is a threonine residue. The nucleotide exchanges involve a HaeIII (position 416) and a StyI (position 420) restriction site: the HaeIII restriction site is specific for the GC*1S allele and the StyI restriction site is specific for the GC*2 allele. We have tested 140 individual genomic DNA samples for the HaeIII site and 148 samples for the StyI site by restriction fragment length polymorphism (RFLP) analysis with a DBP-specific direct genomic DNA probe, and have compared these findings with the GC phenotype classification, by isoelectric focusing (IEF) of the corresponding plasma. The results of the HaeIII RFLP analysis and the IEF typing were in complete agreement. By using our DNA probe, we could disclose, in addition to the StyI site at amino acid position 420, two further StyI site downstream: one was specific for the GC*1S allele and another for the GC*1F allele. In 147 samples, there was agreement between the IEF GC typing and the analysis of the StyI restriction sites. In a single case, the observed result of the StyI-digest differed from the result expected after IEF classification: homozygous GC 1F-1F by IEF and heterozygous by StyI RFLP analysis. We discuss this finding as a recombination event or a possible silent allele in IEF typing. The GC polymorphism revealed by Southern blot analysis of StyI-digests provides an informative DNA marker system for chromosome 4q11-q13.
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PMID:Molecular analysis of the gene for the human vitamin-D-binding protein (group-specific component): allelic differences of the common genetic GC types. 135 71

Disturbances in dopaminergic activity may play an important role in the pathogenesis of manic depression. The effects of dopamine are mediated by at least five G protein coupled receptors, D1, D2, D3, D4 and D5. Recently, three separate research groups have cloned and characterized the D1 dopamine receptor, which localizes to 5q35.1. We undertook a linkage analysis between the D1 receptor polymorphisms and manic depression in six families in which segregation of the disease was consistent with autosomal dominant inheritance. A highly polymorphic flanking DNA marker, CRI-L1200, was also analyzed as the D1 gene RFLPs were relatively uninformative in our families. Multipoint analyses of manic depression and these DNA markers resulted in lod scores of less than -3.0 at the D1 locus, indicating that the D1 dopamine receptor gene does not confer an inherited susceptibility to manic-depressive illness in the families studied.
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PMID:Linkage analysis of the D1 dopamine receptor gene and manic depression in six families. 136 Sep 40

We performed prenatal testing to predict the inheritance of choroideremia (CHM) using a linked polymorphic DNA marker, DXS95. DNA analysis of chorionic villi at the 12th week of pregnancy indicated that the allele at risk had not been passed from the heterozygous mother to the fetus. This prenatal exclusion of choroideremia was confirmed by polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis.
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PMID:Prenatal exclusion of choroideremia. 136 26

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant predisposition to neoplastic lesions of the parathyroid glands, the neuroendocrine pancreas, and the anterior pituitary gland. The predisposing genetic defect was localized to the long arm of chromosome 11 by genetic linkage analysis in three affected families. By analyzing six MEN 1 families with 14 DNA marker systems located close to the MEN 1 gene, we have developed a method to identify carriers of the MEN 1 predisposition. We describe practical aspects of such DNA-based diagnostic procedures.
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PMID:Practical guidelines for DNA-based testing in multiple endocrine neoplasia type 1. 136

We report on the use of DNA marker probes and linkage analysis to exclude Norrie's disease in the male fetus of a high risk carrier. There are no clinical markers in females carrying the Norrie's disease gene; thus DNA linkage analysis is an essential technique in the management of families 'at-risk' for this severe ophthalmic disease. The principles of DNA linkage are discussed.
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PMID:Prenatal exclusion of Norrie's disease. 139 May 33


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