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1.
Cuscó I Barceló MJ del Rio E Martín Y Hernández-Chico C Bussaglia E Baiget M Tizzano EF 《Human genetics》2001,108(3):222-229
Autosomal recessive spinal muscular atrophy (SMA) is classified, by age of onset and maximal motor milestones achieved, into type I (severe form), type II (intermediate form) and type III (mild/moderate form). SMA is caused by mutations in the survival motor neuron telomeric gene (SMN1) and a centromeric functional copy of this gene (SMN2) exists, both genes being located at 5q13. Homozygous deletion of exons 7 and 8 of SMN1 has been detected in approx 85% of Spanish SMA patients regardless of their phenotype. Nineteen cases with the sole deletion of exon 7 but not exon 8 (2 cases of type I, 13 cases of type II, four cases of type III) were further analysed for the presence of SMN2-SMN1 hybrid genes. We detected four different hybrid structures. Most of the patients were carriers of a hybrid structure: centromeric intron 6- centromeric exon 7- telomeric exon 8 (CCT), with or without neuronal apoptosis-inhibitor protein (NAIP). In two patients, a different hybrid structure, viz. telomeric intron 6- centromeric exon 7- telomeric exon 8 (TCT), was detected with or without NAIP. A phenotype-genotype correlation comparing the different structures of the hybrid alleles was delineated. Type I cases in our series are attributable to intrachromosomal deletion with a smaller number of SMN2 copies. Most cases with hybrid genes are type II occurring by a combination of a classical deletion in one chromosome and a hybrid gene in the other. Type III cases are closely associated with homozygozity or compound heterozygozity for hybrid genes resulting from two conversion events and have more copies of hybrid genes and SMN2 than type I or II cases. 相似文献
2.
Clara Serra-Juhé Ivon Cuscó A?da Homs Raquel Flores Núria Torán Luis A Pérez-Jurado 《Epigenetics》2015,10(2):167-177
Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression. 相似文献
3.
Linkage of cystic fibrosis locus and polymorphic DNA markers in 14 families 总被引:1,自引:0,他引:1 下载免费PDF全文
Susan L. Naylor Don R. Barnett James M. Buchanan Jo Latimer Ken Wieder Scott Marshall Julie Gardner Carolyn R. Denning Muriel Gluckson Ricardo Pinero Henry Rendon L. Ivon Miranda Candace Kammerer Shelley M. Zansky Rose H. King Barbara H. Bowman Jean W. MacCluer 《American journal of human genetics》1986,39(6):707-712
Linkage relationships between the cystic fibrosis (CF) locus and three polymorphic DNA markers were examined in 14 families, five of which were of Hispanic origin. Tight linkage was found between the CF locus and MET (maximum lod score = 7.16 at theta = .001), and between CF and pJ3.11 (maximum lod score = 3.87 at theta = .001). We observed two recombinations between CF and collagen, yielding a maximum lod score of 0.359 at theta = .125, and one recombination in the cluster CF-MET-pJ3.11. Analysis by the seriation method indicates the order COL-pJ3.11-CF-MET. 相似文献
4.
Acosta-Rivero N Rodriguez A Mussachio A Poutou J Falcon V Torres D Aguilar JC Linares M Alonso M Perez A Menendez I Morales-Grillo J Marquez G Dueñas-Carrera S 《Biochemical and biophysical research communications》2005,334(3):901-906
Little is known about the assembly pathway or structure of the hepatitis C virus (HCV). In this work a truncated HCcAg variant covering the first 120 aa (HCcAg.120) with a 32 aa N-terminal fusion peptide (6x Histag-Xpress epitope) was purified as a monomer under strong denaturing conditions. In addition, minor HCcAg.120 peaks exhibiting little different molecular mass by SDS-PAGE which possibly represents alternative forms harboring the N-termini of HCcAg.120 were detected. Analysis using gel filtration chromatography showed that HCcAg.120 assembled into high molecular weight structures in vitro in the absence of structured nucleic acids. The negative-stain electron microscopy analysis revealed that these structures correspond with spherical VLPs of uniform morphology and size distribution. The diameters of these particles ranged from 20 to 43nm with an average diameter of approximately 30 nm and were specifically immunolabelled with a mouse monoclonal antibody against the residues 5-35 of HCcAg. Results presented in this work showed that HCcAg.120 assembled in vitro into VLPs in the absence of structured nucleic acids with similar morphology and size distribution to those found in sera and hepatocytes from HCV-infected patients. Therefore, these VLPs would be important to elucidate the mechanisms behind the ability of HCcAg to assemble into a nucleocapsid structure. 相似文献
5.
Juan?R. González Alejandro Cáceres Tonu Esko Ivon Cuscó Marta Puig Mikel Esnaola Judith Reina Valerie Siroux Emmanuelle Bouzigon Rachel Nadif Eva Reinmaa Lili Milani Mariona Bustamante Deborah Jarvis Josep?M. Antó Jordi Sunyer Florence Demenais Manolis Kogevinas Andres Metspalu Mario Cáceres Luis?A. Pérez-Jurado 《American journal of human genetics》2014,94(3):361-372
The prevalence of asthma and obesity is increasing worldwide, and obesity is a well-documented risk factor for asthma. The mechanisms underlying this association and parallel time trends remain largely unknown but genetic factors may be involved. Here, we report on a common ∼0.45 Mb genomic inversion at 16p11.2 that can be accurately genotyped via SNP array data. We show that the inversion allele protects against the joint occurrence of asthma and obesity in five large independent studies (combined sample size of 317 cases and 543 controls drawn from a total of 5,809 samples; combined OR = 0.48, p = 5.5 × 10−6). Allele frequencies show remarkable worldwide population stratification, ranging from 10% in East Africa to 49% in Northern Europe, consistent with discordant and extreme genetic drifts or adaptive selections after human migration out of Africa. Inversion alleles strongly correlate with expression levels of neighboring genes, especially TUFM (p = 3.0 × 10−40) that encodes a mitochondrial protein regulator of energy balance and inhibitor of type 1 interferon, and other candidates for asthma (IL27) and obesity (APOB48R and SH2B1). Therefore, by affecting gene expression, the ∼0.45 Mb 16p11.2 inversion provides a genetic basis for the joint susceptibility to asthma and obesity, with a population attributable risk of 39.7%. Differential mitochondrial function and basal energy balance of inversion alleles might also underlie the potential selection signature that led to their uneven distribution in world populations. 相似文献
6.
Juice freshly expressed from Sorghum bicolor for making sweet sorghum syrup contained 108 microorganisms per ml. The dominant bacterium was Leuconostoc mesenteroides, followed by gram-negative rods. Lactobacilli, yeasts, and nonfecal coliform bacteria each comprised about 1% of the microbial population. Spoilage of juice, manifested by a sour odor, discoloration, and foaming, occurred between 5 and 12 h at ambient temperatures. Spoilage was correlated with a drop in pH from 4.9 to 4.5 L. mesenteroides was the dominant spoiling agent at 20°C, and Lactobacillus plantarum was the dominant spoiling agent at 32°C, as determined by pure culture studies. Juice may be stored for 14 days at 4°C if promptly refrigerated. 相似文献
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Juan R. González Alejandro Cáceres Tonu Esko Ivon Cuscó Marta Puig Mikel Esnaola Judith Reina Valerie Siroux Emmanuelle Bouzigon Rachel Nadif Eva Reinmaa Lili Milani Mariona Bustamante Deborah Jarvis Josep M. Antó Jordi Sunyer Florence Demenais Manolis Kogevinas Andres Metspalu Mario Cáceres Luis A. Pérez-Jurado 《American journal of human genetics》2014
9.
qpure: A Tool to Estimate Tumor Cellularity from Genome-Wide Single-Nucleotide Polymorphism Profiles
Sarah Song Katia Nones David Miller Ivon Harliwong Karin S. Kassahn Mark Pinese Marina Pajic Anthony J. Gill Amber L. Johns Matthew Anderson Oliver Holmes Conrad Leonard Darrin Taylor Scott Wood Qinying Xu Felicity Newell Mark J. Cowley Jianmin Wu Peter Wilson Lynn Fink Andrew V. Biankin Nic Waddell Sean M. Grimmond John V. Pearson 《PloS one》2012,7(9)
Tumour cellularity, the relative proportion of tumour and normal cells in a sample, affects the sensitivity of mutation detection, copy number analysis, cancer gene expression and methylation profiling. Tumour cellularity is traditionally estimated by pathological review of sectioned specimens; however this method is both subjective and prone to error due to heterogeneity within lesions and cellularity differences between the sample viewed during pathological review and tissue used for research purposes. In this paper we describe a statistical model to estimate tumour cellularity from SNP array profiles of paired tumour and normal samples using shifts in SNP allele frequency at regions of loss of heterozygosity (LOH) in the tumour. We also provide qpure, a software implementation of the method. Our experiments showed that there is a medium correlation 0.42 (-value = 0.0001) between tumor cellularity estimated by qpure and pathology review. Interestingly there is a high correlation 0.87 (-value 2.2e-16) between cellularity estimates by qpure and deep Ion Torrent sequencing of known somatic KRAS mutations; and a weaker correlation 0.32 (-value = 0.004) between IonTorrent sequencing and pathology review. This suggests that qpure may be a more accurate predictor of tumour cellularity than pathology review. qpure can be downloaded from https://sourceforge.net/projects/qpure/. 相似文献
10.
Clara Serra-Juhé Benjamín Rodríguez-Santiago Ivon Cuscó Teresa Vendrell Núria Camats Núria Torán Luis A. Pérez-Jurado 《PloS one》2012,7(10)