Search results for "Polymorphism"

Genome-wide analysis identifies potentially causative genes explaining the phenotypic variability in Pinzirita sheep

2019

Genome-wide analysis identifies potentially causative genes explaining the phenotypic variability in Pinzirita sheep

Laser Pressure Catapulting (LPC): Optimization LPC-System and Genotyping of Colorectal Carcinomas

2005

Genotype analysis is becoming more and more useful in clinical practice, since specific mutations in tumors often correlate with prognosis and/or therapeutic response. Unfortunately, current molecular analytical techniques often require time-consuming and costly steps of analysis, thus making their routine clinical use difficult. Moreover, one of the most difficult problems arising during tumor research is that of their cell heterogeneity, which depends on their clear molecular heterogeneity. SSCP analysis discriminates by means of aberrant electrophoresis migration bands, mutated alleles which may represent as little as 15-20% of their total number. Nevertheless, in order to identify by se…

Sequence characterization of the melanocortin 1 receptor (MC1R) gene in sheep with different coat colour and identification of the putative e allele …

2010

Abstract Sequence of the melanocortin 1 receptor (MC1R) gene (the Extension locus) was obtained from a panel of 73 animals belonging to 9 Italian sheep breeds or populations (Appenninica, Bergamasca, Comisana, Cornigliese-like, Delle Langhe, Massese, Merinizzata Italiana, Sarda and Valle del Belice) with different coat colours. Evaluation of the identified polymorphisms on this phenotype was reported with in silico predictions and comparative approaches within and across breeds and across species. Five novel single nucleotide polymorphisms (SNPs), organized in three haplotypes, were detected. Another haplotype, including the two missense mutations already described for the ED allele, was id…

Signature of recent historical events in the European Y-chromosomal STR haplotype distribution

2005

Previous studies of human Y-chromosomal single-nucleotide polymorphisms (Y-SNPs) established a link between the extant Y-SNP haplogroup distribution and the prehistoric demography of Europe. By contrast, our analysis of seven rapidly evolving Y-chromosomal short tandem repeat loci (Y-STRs) in over 12,700 samples from 91 different locations in Europe reveals a signature of more recent historic events, not previously detected by other genetic markers. Cluster analysis based upon molecular variance yields two clearly identifiable sub-clusters of Western and Eastern European Y-STR haplotypes, and a diverse transition zone in central Europe, where haplotype spectra change more rapidly with longi…

Molecular Genetic Investigations in Autosomal Dominant Polycystic Kidney Disease. Gene Mutation Detection, Linkage Analysis, and Preliminary ACE Gene…

1997

Interleukin-10 promoter polymorphism in sporadic Alzheimer's disease.

2003

Proinflammatory cytokines and acute-phase proteins play an important role in Alzheimer's disease (AD) neurodegeneration, and common polymorphisms of genes controlling their high production have been shown to be associated with AD. Thus, AD patients display a proinflammatory genotype and the control of inflammation might play a protective role in AD development. By sequence-specific probes, we have evaluated the role of anti-inflammatory cytokine interleukin(IL)-10 in AD, by analysing in 132 AD patients and 213 healthy controls the prevalence of three different haplotypes, involving three single-nucleotide polymorphisms (SNPs) at -1082 (G--A), -819 (C--T) and -592 (C--A) nucleotides of IL-10…

Patterns of puffing activity and chromosomal polymorphism in Drosophila subobscura I. J. and U chromosomes

1982

A study of the puffing patterns of the Jst, J1, U1−2, U1−2−8 and Ust chromosomal arrangements of Drosophila subobscura, from different geographical origins, has been carried out. Twenty-eight puffs were observed, 10 on the J chromosome, and 18 on the U chromosome. No differences, whether qualitative or quantitative, have been found between the puffing pattern of the J chromosome, whether from the same of different geographical background. In the U chromosome, the U1−2 and U1+2+8 arrangements show the same puffing pattern, and neither quantitative nor qualitative differences were found. However, the puffing pattern of these chromosomes alters considerably in the Ust arrangement of the K228 l…

Towards a Physical Map of the HLA Complex

1989

The human major histocompatibility (HLA) complex is located on the short arm of chromosome 6 in the 6p21.31→6p21.33 region (1,2). There are three clusters of genes, the HLA class I, II, and III regions. Whereas the class III loci are only moderately polymorphic (see (3) for review), the class I and II genes which encode cell surface glycoproteins show an extreme degree of polymorphism. There are a minimum of 17 class I loci (4) and at least 15 genes for class II alpha and beta chains (5). In addition, we (6) and others (7) have recently demonstrated that also the loci for tumor necrosis factor (TNFA) and lymphotoxin (TNFB) are part of the HLA complex [see also Ragoussis et al., this volume]…

Considerations from the European DNA profiling group (EDNAP) concerning STR nomenclature

1997

(1) The nomenclature of any STR follows from comparison with a control allelic ladder; availability of reference allelic ladders is central to any scheme. The components of an allelic ladder should be sequenced. (2) The DNA commission recommended a nomenclature based upon the number of repeat sequences present in an allele. Whereas this method is suitable for typing simple STRs, complex hypervariable repeats such as ACTBP2 do not conform to a simple repeating structure. We propose that designation of complex STR repeats such as ACTBP2, D11S554 and APOAI1 follows from the size of specific alleles. Because the size is dependant upon the primers utilised, the size is not definitive (it may als…

Forensics of birds of prey by DNA fingerprinting with 32P-labeled oligonucleotide probes.

1991

Paternity tests on confiscated families of eight species of birds of prey were carried out successfully by DNA fingerprinting with 32P-labeled oligonucleotide probes. Variations in the number of hybridized fragments, depending on the species of birds, are observed using the same probe, as well as differences of polymorphism by hybridizing the DNA samples with several oligonucleotide probes.