Search Results - (Author, Cooperation:M. Devoto)

2010-12-03

Nature Publishing Group (NPG)

0028-0836

1476-4687

Biology

Chemistry and Pharmacology

Medicine

Natural Sciences in General

Physics

Alleles ; Cell Line, Tumor ; Cell Proliferation ; Chromosomes, Human, Pair 11/genetics ; DNA Copy Number Variations/genetics ; DNA-Binding Proteins/*genetics ; Disease Progression ; Europe/ethnology ; Gene Duplication/genetics ; Gene Expression Regulation, Neoplastic/genetics ; Genetic Predisposition to Disease/*genetics ; Genome, Human/genetics ; *Genome-Wide Association Study ; Genomics ; Genotype ; Humans ; LIM Domain Proteins ; Neuroblastoma/*genetics/pathology ; Odds Ratio ; Oncogenes/*genetics ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Survival Rate ; Transcription Factors/*genetics

1546-1718

Nature Archives 1869 - 2009

Biology

Medicine

[Auszug] Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 newborns) of unknown origin characterized by the absence of parasympathetic intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2–q21.2) in a patient with total ...

Electronic Resource

1546-1718

Nature Archives 1869 - 2009

Biology

Medicine

[Auszug] Wilson disease (WD) is an autosomal recessive disorder of copper transport which maps to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype ...

Electronic Resource

1546-1718

Nature Archives 1869 - 2009

Biology

Medicine

[Auszug] Wilson disease (WD) is an autosomal recessive disorder characterized by the toxic accumulation of copper in a number of organs, particularly the liver and brain. As shown in the accompanying paper, linkage disequilibrium & haplotype analysis confirmed the disease locus to a single marker ...

Electronic Resource

1365-2036

Blackwell Publishing Journal Backfiles 1879-2005

Medicine

Background : Host genetic factors may be important in determining not only disease susceptibility, but also disease behaviour and response to therapy in inflammatory bowel disease. Two polymorphisms (C3435T and G2677T/A) of the multidrug resistance 1 gene have been correlated with the altered P-glycoprotein expression and function in humans, and associated with predisposition to ulcerative colitis and Crohn's disease.Aim : To investigate the contribution of these polymorphisms to disease susceptibility and response to medical therapy.Methods : A total of 946 inflammatory bowel disease patients (478 Crohn's disease, 272 males, mean age 43 ± 14 years and 468 ulcerative colitis, 290 males, mean age 48 ± 15 years) and 450 healthy controls were genotyped for the single nucleotide polymorphisms C3435T and G2677T/A. Patients were also classified on the basis of response to medical therapy (mesalazine, steroids, immunosuppressives and infliximab).Results : Both single nucleotide polymorphisms were in Hardy–Weinberg equilibrium and significant linkage disequilibrium. No significant difference in the allele, genotype, and haplotype frequencies was found in both Crohn's disease and ulcerative colitis patients compared with the controls. No correlation with clinical features was found, except for a reduced frequency of extra-intestinal manifestations in Crohn's disease patients with the G2677T genotype (40%) compared with GG2677 and 2677TT genotypes (54% and 58%, respectively) (P = 〈0.02). No significant difference was also found after stratifying the patients on the basis of their response to medical therapy.Conclusion : The investigated polymorphisms of the multidrug resistance 1 gene have no significant role in disease susceptibility and response to medical therapy in our Italian population of inflammatory bowel disease patients.

Electronic Resource

0888-7543

Elsevier Journal Backfiles on ScienceDirect 1907 - 2002

Biology

Medicine

Electronic Resource

0888-7543

Elsevier Journal Backfiles on ScienceDirect 1907 - 2002

Biology

Medicine

Electronic Resource

1749-6632

Blackwell Publishing Journal Backfiles 1879-2005

Natural Sciences in General

Electronic Resource

1432-069X

Key words Aplasia cutis congenita ; Linkage analysis ; 1q ; 12q ; EDC

Springer Online Journal Archives 1860-2000

Medicine

Abstract We studied a three-generation pedigree in which seven individuals were affected by aplasia cutis congenita, a rare disorder characterized by the congenital absence of the epidermis, dermis and subcutaneous tissue of the vertex or occipital region. Accurate clinical and formal genetic analysis suggested that this family was affected by the autosomal dominant form of the disease, a hereditary condition due to mutations of an unknown gene. To define the map position of this locus, we performed linkage analysis on candidate chromosomes (long arm of chromosomes 1 and 12). Negative lod scores were obtained for all markers analysed and linkage with genes located in these chromosomal regions was excluded.

Electronic Resource

1432-1203

Springer Online Journal Archives 1860-2000

Biology

Medicine

Electronic Resource

1432-1203

Springer Online Journal Archives 1860-2000

Biology

Medicine

Summary Analysis of a sample of 50 unrelated cystic fibrosis (CF) patients and 46 nuclear families from Slovakia (Czechoslovakia) by the polymerase chain reaction and Southern hybridization revealed that the proportion of the ΔF508 mutation was 58% in this population, and that the frequency of the B (i.e., KM19/XV2c [1–2]) haplotype was increased in both ΔF508 and nonΔF508 CF chromosomes (98% and 46%, respectively). These results support the view that the trans-European gradient of the ΔF508 frequency is of a geographical rather than of an ethnic origin, and that in Slavonic populations, there exists an as yet unidentified but frequent CF mutation other than ΔF508, associated with the B haplotype.

Electronic Resource

1432-1203

Springer Online Journal Archives 1860-2000

Biology

Medicine

Summary The relative frequency of the ΔF508 mutation in the Greek population is 54.1%; this is similar to that reported in other Southern European populations and contrasts with the considerably higher frequencies encountered in Northern Europe and North America. The low frequency is in agreement with the linkage disequilibrium already reported between cystic fibrosis and haplotype B in this country. In contrast to the common association of pancreatic insufficiency with the homozygous ΔF508 genotype, the present study revealed two homozygous children with no evidence of pancreatic failure.

Electronic Resource

1432-1076

Duchenne muscular dystrophy, Becker muscular dystrophy ; Carrier diagnosis ; Prenatal diagnosis ; X-linked muscular dystrophies

Springer Online Journal Archives 1860-2000

Medicine

Abstract The indirect approach to carrier detection and prenatal diagnosis of Duchenne and Becker muscular dystrophies based on the study of DNA polymorphisms closely linked to this gene has been followed by five Italian laboratories in the study of 106 pedigrees. Out of 354 women studied up to 1 May 1987, 147 were identified as carriers because of pedigree information and/or of increased creatine phosphokinase (CPK) values. Of the remaining 207, 184 could be assigned to three arbitrarily defined risk categories (low, intermediate and high) using linkage analysis. This disaggregation of women at risk is clearly more useful than that defined before DNA analysis, in which the same 184 women could be assigned only to the low or intermediate risk categories. Prenatal diagnosis was theoretically possible in 90% of carrier women, and was actually performed in 14 pregnancies, which led to the identification of four affected male foetuses, one also having Down syndrome.

Electronic Resource

1573-2665

Springer Online Journal Archives 1860-2000

Medicine

Electronic Resource