Search results for " Polymorphism."

2004

Background As an alternative to direct DNA sequencing of PCR products, random PCR-RFLP is an efficient technique to discriminate between species. The PCR-RFLP-method is an inexpensive tool in forensic science, even if the template is degraded or contains only traces of DNA from various species.

Amplified fragment length polymorphism (AFLP) and biochemical typing of Photobacterium damselae subsp. damselae.

2002

Aims: The aim of the present study was to characterize subspecifically Photobacterium damselae subsp. damselae strains isolated from cultured Sparus aurata and Dicentrarchus labrax by means of phenotypic and molecular typing techniques (amplified fragment length polymorphism, AFLP). Methods and Results: Seventy-one strains of P. damselae subsp. damselae were isolated from 38 cultured fishes at different fish farms located on the Mediterranean coast near Valencia, Spain. Most fish studied were asymptomatic and some were recovered during infectious outbreaks. Phenotypic characterization revealed a considerable degree of variability within the subspecies, including some characters, such as pro…

Second generation sequencing of three STRs D3S1358, D12S391 and D21S11 in Danes and a new nomenclature for sequenced STR alleles

2014

Second generation sequencing (SGS) may revolutionize the field of forensic STR typing. Two of the essential requirements for implementation of an SGS based approach for forensic investigations are (1) establishment of adequate frequency databases and (2) adoption of a new STR nomenclature. We report the STR sequences and allele frequencies of three STR loci: D3S1358, D12S391 and D21S11 in 197 unrelated Danes. We used a new STR nomenclature that depicts the locus name used in forensic genetics, the length of the repeat region divided by the repeat length (typically 4 nucleotides) and detailed sequence information of possible sub-repeats and SNPs within the amplified fragment.

3H-uridine labelling patterns and chromosomal polymorphism inDrosophila subobscura: J and U chromosomes

1984

The3H-uridine labelling patterns in J and U polytene chromosomes ofDrosophila subobscura were determined. The analysis was carried out in two developmental stages and in two strains proceeding from the same geographical origin whose genotypes were: Jst/Jst; U1+2/U1+2 and J1/J1; U1+2+8/U1+2+8 respectively. It was observed that the labelling pattern coincided very approximately with the puffing pattern in the same stages and chromosomal arrangements. Comparison of the3H-Uridine incorporation patterns between chromosomal arrangements showed light quantitative differences. These results are discussed in relation to the inversion effect.

The human complement C9 gene: structural analysis of the 5′ gene region and genetic polymorphism studies

2001

Summary C9 is the last of the human complement components creating the membrane attack complex. The single chain serum protein is encoded by a gene located on chromosome 5p13 that is composed of 11 exons. With the aid of inverse PCR, the hitherto unknown regions flanking exon 1 and the 3′ part of exon 11 (3′UTR) have been sequenced. A computer-based analysis of the 300-bp region located just upstream of the AUG start codon showed homologies to known DNA modules which affect the transcriptional regulation of certain genes. The most striking of these is a sequence that may substitute the missing TATA box in initiating C9 transcription. In the 3′UTR, three successive polyadenylation signals we…

Minimum Free Energy Based Evaluation of mRNAs Secondary Structures Constructed by 18 Clinically Significant Exonic Single Nucleotide Polymorphisms (S…

2015

Clinically significant 18 Single Nucleotide Polymorphisms (SNPs) from exon regions of Retinoblastoma gene (RB1) were analyzed to find out the structural variations in mRNAs. Online bioinformatic tools i.e., Vienna RNA, RNAfold were used for secondary structure analysis of mRNAs. Predicted minimum Free Energy Change (MFE) was calculated for mRNAs structures. It has been observed that the average of predicted MFE value from 13 nonsense mutations was higher (0.76 kcal/mol) in comparison to 5 missense mutations. Presumably, 13 nonsense mutations are responsible for Nonsense Mediated mRNA Decay (NMD), therefore, excluded from haplotype analysis. From the statistical analysis all the thermodynami…

Analysis of the Single-Nucleotide Polymorphism in the 5′UTR and Part of Intron I of the Sheep MSTN Gene

2011

The myostatin (MSTN) gene region encompassing the 5′UTR and part of intron I was sequenced in animals of two herds of Latvian Darkhead sheep to extend data on the ovine MSTN gene polymorphism and to provide information useful for local breed conservation. Two and four polymorphic loci were revealed in the 5′UTR and intron I. Four and five local haplotypes were constructed, respectively. The genotyping data obtained and that previously reported for the same genomic region were combined in one dataset for the haplotype analysis. Recombination events were detected between loci (c.−40, c.−37) in the 5′UTR and (c.373+18, c.373+101) and (c.373+101, c.373+241) in intron I. Single-nucleotide polymo…

Forensic typing of autosomal SNPs with a 29 SNP-multiplex--results of a collaborative EDNAP exercise.

2008

We report the results of an inter-laboratory exercise on typing of autosomal single nucleotide polymorphisms (SNP) for forensic genetic investigations in crime cases. The European DNA Profiling Group (EDNAP), a working group under the International Society for Forensic Genetics (ISFG), organised the exercise. A total of 11 European and one US forensic genetic laboratories tested a subset of a 52 SNP-multiplex PCR kit developed by the SNPforID consortium. The 52 SNP-multiplex kit amplifies 52 DNA fragments with 52 autosomal SNP loci in one multiplex PCR. The 52 SNPs are detected in two separate single base extension (SBE) multiplex reactions with 29 and 23 SNPs, respectively, using SNaPshot …

A sensitive issue: Pyrosequencing as a valuable forensic SNP typing platform

2006

Analysing minute amounts of DNA is a routine challenge in forensics in part due to the poor sensitivity of an instrument and its inability to detect results from forensic samples. In this study, the sensitivity of the Pyrosequencing method is investigated using varying concentrations of DNA and five autosomal single nucleotide polymorphisms in singleplex on both available instrument models; the PSQ™ 96MA and PSQ™ HS 96A. A detailed comparison of the two models was completed while establishing a lower limit of detection on both instruments to give results supporting the use of Pyrosequencing as a valuable forensic SNP typing platform. © 2005 Elsevier B.V. All rights reserved.

DNA polymorphism of the human complement C8 beta gene: formal genetics and intragenic localization.

1989

The eighth component of human complement consists of three subunits of different molecular mass, which are coded for by three separate genetic loci. Polymorphisms have been described at the protein level for the alpha and beta subunits by means of sodium dodecyl sulfate gel electrophoresis and isoelectric focusing. Using a full-length human C8 beta cDNA probe, we have studied more than 100 individuals by Southern blot analysis to detect DNA polymorphisms. We have found two restriction fragment length polymorphisms (RFLPs) with the enzymes Taq I and Bam HI. The Taq I polymorphism is defined by two alleles, i.e., a single 4.9 kb fragment or two 2.8/2.1 kb fragments. The allele frequencies are…