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)

Amyotrophic lateral sclerosis (ALS: Lou Gehrig's Disease) is a lethal neurodegenerative disease of upper and lower motorneurons in the brain and spinal cord. We previously reported linkage of a gene for familial ALS (FALS) to human chromosome 21 using 4 restriction fragment length polymorphism DNA markers [Siddique et al.: N Engl J Med 324:1381-1384, 1991] and identified disease-associated mutations in the superoxide dismutase (SOD)-1 gene in some ALS families [Rosen et al.: Nature 362:59-62, 1993]. We report here the genetic linkage data that led us to examine the SOD-1 gene for mutations. We also report a new microsatellite DNA marker for D21S63, derived from the cosmid PW517 [VanKeuren et al.: Am J Hum Genet 38:793-804, 1986]. Ten microsatellite DNA markers, including the new marker D21S63, were used to reinvestigate linkage of FALS to chromosome 21. Genetic linkage analysis performed with 13 ALS families for these 10 DNA markers confirmed the presence of a FALS gene on chromosome 21. The highest total 2-point LOD score for all families was 4.33, obtained at a distance of 10 cM from the marker D21S223. For 5 ALS families linked to chromosome 21, a peak 2-point LOD score of 5.94 was obtained at the DNA marker D21S223. A multipoint score of 6.50 was obtained with the markers D21S213, D21S223, D21S167, and FALS for 5 chromosome 21-linked ALS families. The haplotypes of these families for the 10 DNA markers revealed recombination events that further refined the location of the FALS gene to a segment of approximately 5 megabases (Mb) between D21S213 and D21S219.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers. 791 94

Two Heterodera avenae resistance genes, Cre2 from Aegilops ventricosa AP-1 and Cre5 from Ae. ventricosa #10, were shown to confer a high level of resistance to the Spanish pathotype Ha71. No susceptible plants were found in the F(2) progeny from the cross between the two accessions of Ae. ventricosa, suggesting that their respective resistance factors were allelic. However, genes Cre2 and Cre5 apparently were transferred to a different chromosomal location in the wheat line H-93-8 and in the 6M(v)(6D) substitution, respectively, as proved by F(2) segregation of their cross progeny. The induction of several defence responses during early infection by the same H. avenae pathotype in resistant lines carrying Cre2 or Cre5 genes was studied. Isoelectrofocusing (IEF) isozyme analysis revealed that peroxidase, esterase and superoxide dismutase activity increased after nematode infection, in roots of resistant lines in comparison with their susceptible parents. Differential induced isoforms were also identified when IEF patterns of resistant lines were compared. A DNA marker, absent in Cre5-carrying genotypes, was found to be linked, thought not very tightly, to the Cre2 gene in the H-93-8 line. The differences observed between the Cre2 and Cre5 genes with respect to their chromosomal location in wheat introgression lines, de-toxificant enzyme induction and behaviour against different pathotypes, suggest they are different H. avenae resistance sources for wheat breeding.
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PMID:Biochemical and genetic studies of two Heterodera avenae resistance genes transferred from Aegilops ventricosa to wheat. 1275 72

Oxidative stress may be the unifying factor for the injury caused by hyperglycemia in diabetic peripheral neuropathy. Puerarin is the major isoflavonoid derived from Radix puerariae and has been shown to be effective in increasing superoxide dismutase activity. This study sought to investigate the neuroprotective effect of puerarin on high glucose-induced oxidative stress and Schwann cell apoptosis in vitro. Intracellular reactive oxygen radicals and mitochondrial transmembrane potential were detected by flow cytometry analysis. Apoptosis was confirmed by TUNEL and oxidative stress was monitored using an enzyme-linked immunosorbent assay for the DNA marker 8-hydroxy-2-deoxyguanosine. The expression levels of bax and bcl-2 were analyzed by quantitative real-time reverse transcriptase-PCR, while protein expression of cleaved caspase-3 and -9 were analyzed by means of western blotting. Results suggested that puerarin treatment inhibited high glucose-induced oxidative stress, mitochondrial depolarization and apoptosis in a dose-dependent manner. Furthermore, puerarin treatment downregulated Bax expression, upregulated bcl-2 expression and attenuated the activation of caspase-3 and -9. Overall, our results indicated that puerarin antagonized high glucose-induced oxidative stress and apoptosis in Schwann cells.
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PMID:Puerarin prevents high glucose-induced apoptosis of Schwann cells by inhibiting oxidative stress. 2536 34