Search results for "polymorph"

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.

Karyotype analyses reveal inter-individual polymorphism and association of nucleolus-organizer-carrying chromosomes in Capros aper (Pisces: Zeiformes)

1992

Three different karyomorphs with 2n=46, 2n=44 and 2n=42 for Capros aper (L., 1758) (Zeiformes) collected from the Gulf of Lion, near Banyuls-sur-Mer, France, in July 1990 were determined. Karyomorphs were characterized by the same arm number [Fundamental number (FN)=50], suggesting that chromosome variations are due to Robertsonian fusions. In somatic metaphase spreads stained with silver nitrate, nucleolus organizer regions (NORs) consistently occupied a terminal position on the short arms of two small submetacentric chromosomes. Ca. 30% of silver-stained metaphases in each specimen showed NOR chromosomes associated in pairs by their nucleolus organizer regions.

Isolation of seven polymorphic microsatellites in Ophioblennius atlanticus atlanticus (Perciformes, Blenniidae)

2005

We isolated and characterized seven polymorphic microsatellite loci of Ophioblennius atlanticus atlanticus (Valenciennes, 1836) using an optimized protocol to construct and screen a microsatellite-enriched genomic library. The analysis of variability was performed in 16 specimens from Faial Island (Azores, Portugal). The mean number of alleles was 8.71 ± ± ± 2.43 and the level of expected heterozygosity ranged from 0.764 to 0.903. The total exclusionary probabilities using these loci for the first and the second parent were 0.985 and 0.998, respectively, suggesting that these microsatellites are a useful tool for large-scale parentage analysis.

Molecular typing of clinical Candida strains using random amplified polymorphic DNA and contour-clamped homogenous electric fields electrophoresis.

2009

Aims:  This report describes an investigation into the genetic profiles of 38 Candida albicans and 19 Candida glabrata strains collected from a dental hospital of Monastir (Tunisia) and the Laboratory of Parasitology, Farhat Hached Hospital of Sousse (Tunisia), using two typing methods: random amplified polymorphic DNA (RAPD) and contour-clamped homogenous electric fields (CHEF). Methods and Results:  The two methods (RAPD and CHEF electrophoresis) were able to identify clonal-related isolates from different patients. RAPD method using two primers (CA1 and CA2) exhibited the highest discriminatory power by discriminating 22 genotypes for C. albicans with CA1 oligonucleotides and 19 genotype…

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…

Dejerine-Sottas neuropathy associated with De Novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene

1998

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 validation of the SNPforID 52-plex assay.

2007

The advantages of single nucleotide polymorphism (SNP) typing in forensic genetics are well known and include a wider choice of high-throughput typing platforms, lower mutation rates, and improved analysis of degraded samples. However, if SNPs are to become a realistic supplement to current short tandem repeat (STR) typing methods, they must be shown to successfully and reliably analyse the challenging samples commonly encountered in casework situations. The European SNPforID consortium, supported by the EU GROWTH programme, has developed a multiplex of 52 SNPs for forensic analysis, with the amplification of all 52 loci in a single reaction followed by two single base extension (SBE) react…

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 …