Search results for "multiple"
showing 10 items of 2678 documents
Multiple response optimization of blueberry juice depectinization
2017
ABSTRACT: To obtain blueberry juice with a high content of antioxidants it is necessary to introduce an enzymatic depectinization step into the process. Due to the importance of this step in the final properties of blueberry juice it is critical that the operation conditions be optimized. The aim of this research was to evaluate the effects of temperature, duration of treatment and enzymatic complex concentration on anthocyanin content and juice yield during enzymatic depectinization. Results indicated that the best factor combination was 50ºC during 1.3h and 4mg 100g-1 of LAFASE(r) CLARIFICATION and 8mg 100g-1 of LAFASE(r) HE GRAND CRU enzymatic complex concentration. Under these condition…
FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited S…
2005
Supernumerary marker chromosomes (SMCs) are frequently found at pre- and postnatal cytogenetic diagnosis and require identification. A disproportionally large subset of SMCs is derived from the human chromosome 22 and confers tri- or tetrasomy for the cat eye chromosomal region (CECR, the proximal 2 Mb of chromosome 22q) and/or other segments of 22q. Using fluorescence in situ hybridization (FISH) and 15 different DNA probes, we studied nine unrelated patients with an SMC(22) that contained the CECR. Five patients showed the small (type I) cat eye syndrome (CES) chromosome and each one had the larger (type II) CES chromosome, small ring chromosome 22, der(22)t(11;22) extrachromosome, and a …
Forensic animal DNA typing: Allele nomenclature and standardization of 14 feline STR markers
2014
Since the domestic cat (Felis catus) has become one of the most popular pets and owners usually develop a close relationship to their cats, it is necessary to take traces of cats into account for forensic casework. For this purpose feline short tandem (STR) repeat markers have been investigated in several earlier studies, but no detailed description of sequence data, allelic variations or a repeat-based nomenclature is available. The aim of the study was to provide a suggestion for the allele nomenclature of 14 cat STR markers according to the recommendations of the International Society for Forensic Genetics (ISFG) for human DNA typing and to present a standardized system for a secure DNA …
CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers
2003
We re-evaluated the association with multiple sclerosis (MS) of the C77G splicing regulatory variation in the CD45 gene and screened for new mutations the three alternatively spliced exons (#4, 5 and 6). No association with C77G was detected in two groups of patients (total=448) and controls (total=559) from Northern and Southern Italy. When excluding the first published study indicating a positive association, a meta-analysis of the five further studies conducted to date (including the present one) led to a non-significant combined odds ratio (OR) of 1.11. None of the four newly identified nucleotide substitutions, namely C77T (Pro59Pro) in exon 4, G69C (Asp121His) in exon 5, T127A (Ile187…
Multiplex PCR for species discrimination of Sclerotiniaceae by novel laccase introns
2006
Common PCR-based targets for the identification of filamentous fungi and yeasts are the sequences of the internal transcribed spacer region (ITS1, 5.8S rDNA, ITS2). Within the Sclerotiniaceae the ITS-region is homogenous and the identification is almost impossible. Furthermore, the lack of IGS-data (intergenic spacer region) requires new specific marker genes for a rapid identification of phytopathogenic Sclerotiniaceae. We sequenced and analyzed new laccase2 (lcc2) genes from the phylogenetically related Sclerotinia sclerotiorum (Lib.) de Bary, Sclerotinia minor Jagger, and Monilinia fructigena Honey. Comparative analysis revealed remarkable differences in length and sequence compared to t…
Low frequency and rare coding variation contributes to multiple sclerosis risk
2018
AbstractMultiple sclerosis is a common, complex neurological disease, where almost 20% of risk heritability can be attributed to common genetic variants, including >230 identified by genome-wide association studies (Patsopoulos et al., 2017). Multiple strands of evidence suggest that the majority of the remaining heritability is also due to the additive effects of individual variants, rather than epistatic interactions between these variants, or mutations exclusive to individual families. Here, we show in 68,379 cases and controls that as much as 5% of this heritability is explained by low-frequency variation in gene coding sequence. We identify four novel genes driving MS risk independe…
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia
2013
Anophthalmia and microphthalmia (AM) are the most severe malformations of the eye, corresponding respectively to reduced size or absent ocular globe. Wide genetic heterogeneity has been reported and different genes have been demonstrated to be causative of syndromic and non-syndromic forms of AM. We screened seven AM genes [GDF6 (growth differentiation factor 6), FOXE3 (forkhead box E3), OTX2 (orthodenticle protein homolog 2), PAX6 (paired box 6), RAX (retina and anterior neural fold homeobox), SOX2 (SRY sex determining region Y-box 2), and VSX2 (visual system homeobox 2 gene)] in a cohort of 150 patients with isolated or syndromic AM. The causative genetic defect was identified in 21% of t…
Development of a new multiplex assay for STR typing of telogen hair roots
2006
Abstract We have developed a new strategy in which 10 STR systems plus amelogenin were simultaneously amplified from telogen hair roots with maximal fragment sizes smaller than 270 base pairs. The multiplex includes six STR loci from the European standard set of loci (ESS) for DNA databases (D3S1358, D8S1179, D21S11, THO1, FGA and VWA) as well as four additional STR systems selected for their robustness and short amplicon sizes (D2S1338, D12S391, TPOX and D5S818). Due to the biotinylation of the reverse primers from five STRs systems, these PCR products can be separated from the other six amplicons after PCR amplification. The two sub-multiplexes were then analyzed in two different runs on …
Conflict between co-occurring parasites as a confounding factor in manipulation studies?
2005
In their review, Thomas et al. (2005) highlight that, in cases where multiple infections occur in the same intermediate host individual, parasitic manipulation may be the result of not just a single parasite, but may be the cumulative effect of infection by two or more manipulating parasites. Such parasites may be in conflict when they share the same intermediate host but have different final hosts: they may manipulate the host in different ways in order to effect their different transmission p T c r s t s
Bypassing hazard of housekeeping genes: their evaluation in rat granule neurons treated with cerebrospinal fluid of multiple sclerosis subjects
2015
Gene expression studies employing real-time PCR has become an intrinsic part of biomedical research. Appropriate normalization of target gene transcript(s) based on stably expressed housekeeping genes is crucial in individual experimental conditions to obtain accurate results. In multiple sclerosis (MS), several gene expression studies have been undertaken, however, the suitability of housekeeping genes to express stably in this disease is not yet explored. Recent research suggests that their expression level may vary under different experimental conditions. Hence it is indispensible to evaluate their expression stability to accurately normalize target gene transcripts. The present study ai…