Search results for " polymorphism"
showing 10 items of 1028 documents
A report of an international collaborative experiment to demonstrate the uniformity obtainable using DNA profiling techniques
1992
This paper describes a collaborative exercise intended to demonstrate whether uniformity of DNA profile results could be achieved between different European laboratories. It was shown that this goal can be obtained provided that a common protocol is followed (specifically the use of a common electrophoretic buffer as being the most important parameter). Generally, lower molecular weight loci (with lower molecular weight fragments) such as YNH24 perform better than higher molecular weight loci such as MS43a. The results of the exercise are discussed in relation to the objectives of the European DNA profiling group (EDNAP).
A multiplex SNP typing approach for the DNA pyrosequencing technology
2006
Abstract We have developed a multiplex Pyrosequencing assay which enables the simultaneous analyses of 23 single nucleotide polymorphisms (SNPs) from the human genome selected by the SNPforID Consortium. In our investigations we have studied the multiplex capacity of the PSQ™ 96MA instrument (Biotage AB). To test the reliability of SNP typing by Pyrosequencing the SNPs were analysed in parallel by using the SNaPshot minisequencing technique as reference method.
Polymorphism and chromosomal localization of the porcine signal transducer and activator of transcription 5B gene (STAT5B).
2006
Signal transducers and activators of transcription (STATs) are a family of transcription factors. STAT5A and 5B are two highly related proteins encoded by two distinct genes. Transgenic knockout mice studies have indicated the importance of STAT5 proteins for the regulation of both lactation and growth performance. Moreover, different studies determine the role of STAT5 proteins in the modulation of adipocyte function. In this study, we sequenced one fragment of STAT5B gene from animals of six breeds (Duroc, Iberian, Landrace, Large White, Pie´train and Meishan) to identify genetic variants. A G/A single nucleotide polymorphism in intron 14 creates a polymorphic PstI restriction site and wa…
Mixture analysis using SWaP™ SNPs and non-biallelic SNPs
2006
Abstract Improved analysis of degraded samples, increased throughput, and a wider choice of typing platforms are some of the significant advantages offered by single nucleotide polymorphism (SNP) genotyping over established short tandem repeat (STR)-based systems. However, DNA mixtures present a considerable problem to SNP analysis as there is currently no generally accepted technique that allows recognition of the presence of a mixed profile or identification of the individual contributors. We present the first demonstration of SNP mixture analysis with an approach based upon the use of two rare subsets of SNPs: SWaP™ SNPs and non-biallelic SNPs and discuss their value for forensic mixture…
Detection of a novel germline mutation in the von Hippel-Lindau tumour-suppressor gene by fluorescence-labelled base excision sequence scanning (F-BE…
1999
The von Hippel Lindau (VHL) syndrome is an inherited multi-tumour disorder characterised by clinical heterogeneity and high penetrance. The VHL gene has been shown to be a tumour-suppressor gene. A carrier of a germline mutation will be predisposed to a high variety of benign and malign tumours affecting different organ systems. As treatment of VHL malformations in presymptomatic stages will improve significantly the clinical outcome and the patient's quality of life, early and unambiguous detection of a germline mutation is mandatory. Direct sequencing especially of large genes might be laborious and time consuming. Therefore, most laboratories apply single strand conformational polymorphi…
SNVSniffer: An integrated caller for germline and somatic SNVs based on Bayesian models
2015
The discovery of single nucleotide variants (SNVs) from next-generation sequencing (NGS) data typically works by aligning reads to a given genome and then creating an alignment map to interpret the presence of SNVs. Various approaches have been developed to call whether germline SNVs (or SNPs) in normal cells or somatic SNVs in cancer/tumor cells. Nonetheless, efficient callers for both germline and somatic SNVs have not yet been extensively investigated. In this paper, we present SNVSniffer, an integrated caller for germline and somatic SNVs from NGS data based on Bayesian probabilistic models. In SNVSniffer, our germline SNV calling models allele counts per site as a multinomial condition…
Use of PCR and RFLP in fungal systematics
2020
143 ref.; International audience
Genotype frequencies of the +874T→A single nucleotide polymorphism in the first intron of the interferon-γ gene in a sample of Sicilian patients affe…
2002
In the light of the key role played by interferon (IFN)-gamma in the control of tuberculosis, in the present paper we have evaluated the distribution of the functional +874T --> A IFN-gamma single nucleotide polymorphism (SNP) in Sicilian patients affected by tuberculosis. Our aim was to determine whether there is an association between the TT genotype, which has been suggested to be linked to an increased production of IFN-gamma, and resistance to chronic tuberculosis. DNA samples were obtained from 45 patients and 97 healthy controls. Polymorphism at +874 was identified using amplification refractory mutational system methodology. The +874T SNP was less frequent in patients than in contro…
Study of β-defensin polymorphisms in Valle del Belice dairy sheep
2009
The aim of this work was to sequence the exons of β-defensin 1 and 2 genes (SBD1 and SBD2) in Valle del Belice dairy sheep in order to identify polymorphisms. The study was conducted on 60 samples from three flocks. Six SNPs were identified: two in SBD1 and four in SBD2. Both genes consist of two exons and one intron. In SBD1 gene, SNPs were found only in the exon 2, whereas in SBD2, SNPs were detected in both exons. In both genes, SNPs were located in the coding regions and in the 3'-UTR. The SNP in SBD2 located at position 1659 determined a change in the protein sequence. Further studies will be necessary to investigate if the amino acid change modifies the biological function of the…
Development and characterization of 11 microsatellite markers in the rock sparrow, Petronia petronia
2006
Eleven polymorphic microsatellite loci were isolated in the passeriform Petronia petronia using the enrichment protocol FIASCO (fast isolation by AFLP of sequences containing repeats). We detected three to 13 alleles per locus in 25 specimens collected from an Italian population. The level of expected heterozygosity ranged from 0.439 to 0.856. One locus is sex linked to the Z chromosome. The total exclusionary probabilities using these loci for the first and the second parent were 0.978 and 0.999, respectively. These are the first microsatellite loci characterized from the rock sparrow that can be used for estimating population structure and for large-scale parentage analysis.