Genetics Research International最新文献_第6页

Molecular Genetic Diversity and Quantitation of Methanogen in Ruminal Fluid of Buffalo (Bubalus bubalis) Fed Ration (Wheat Straw and Concentrate Mixture Diet). 饲喂日粮(麦秸精混合日粮)水牛瘤胃液甲烷菌分子遗传多样性及定量研究

Genetics Research International Pub Date : 2013-01-01 Epub Date: 2013-06-05 DOI: 10.1155/2013/980191

K M Singh, A K Tripathi, P R Pandya, S Parnerkar, R K Kothari, C G Joshi

{"title":"Molecular Genetic Diversity and Quantitation of Methanogen in Ruminal Fluid of Buffalo (Bubalus bubalis) Fed Ration (Wheat Straw and Concentrate Mixture Diet).","authors":"K M Singh, A K Tripathi, P R Pandya, S Parnerkar, R K Kothari, C G Joshi","doi":"10.1155/2013/980191","DOIUrl":"https://doi.org/10.1155/2013/980191","url":null,"abstract":"High roughage diet causes more methane emissions; however, the total methanogen abundance is not influenced by roughage proportion. Technologies to reduce methane emissions are lacking, and development of inhibitors and vaccines that mitigate rumen-derived methane by targeting methanogens relies on present knowledge of the methanogens. In this work, we have investigated molecular diversity of rumen methanogens of Surti buffalo. DNA from rumen fluid was extracted, and 16S rRNA encoding genes were amplified using methanogen specific primer to generate 16S rDNA clone libraries. Seventy-six clones were randomly selected and analysed by RFLP resulting in 21 operational taxonomic units (OTUs). BLAST analysis with available sequences in database revealed sequences of 13 OTUs (55 clones) showing similarity with Methanomicrobium sp, 3 OTUs (15 clones) with Methanobrevibacter sp. The remaining 5 OTUs (6 clones) belonged to uncultured archaea. The phylogenetic analysis indicated that methanogenic communities found in the library were clustered in the order of Methanomicrobiales (18 OTUs) and Methanobacteriales (3 OTUs). The population of Methanomicrobiales, Methanobacteriales, and Methanococcales were also observed, accounting for 1.94%, 0.72%, and 0.47% of total archaea, respectively. ","PeriodicalId":37545,"journal":{"name":"Genetics Research International","volume":"2013 ","pages":"980191"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2013/980191","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31586415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 16

Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation. 基于snp的UGT1A1基因突变致病性检测工具诊断准确性的回归建模与meta分析

Genetics Research International Pub Date : 2013-01-01 Epub Date: 2013-08-13 DOI: 10.1155/2013/546909

Fakher Rahim, Hamid Galehdari, Javad Mohammadi-Asl, Najmaldin Saki

{"title":"Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.","authors":"Fakher Rahim, Hamid Galehdari, Javad Mohammadi-Asl, Najmaldin Saki","doi":"10.1155/2013/546909","DOIUrl":"https://doi.org/10.1155/2013/546909","url":null,"abstract":"Aims. This review summarized all available evidence on the accuracy of SNP-based pathogenicity detection tools and introduced regression model based on functional scores, mutation score, and genomic variation degree. Materials and Methods. A comprehensive search was performed to find all mutations related to Crigler-Najjar syndrome. The pathogenicity prediction was done using SNP-based pathogenicity detection tools including SIFT, PHD-SNP, PolyPhen2, fathmm, Provean, and Mutpred. Overall, 59 different SNPs related to missense mutations in the UGT1A1 gene, were reviewed. Results. Comparing the diagnostic OR, our model showed high detection potential (diagnostic OR: 16.71, 95% CI: 3.38-82.69). The highest MCC and ACC belonged to our suggested model (46.8% and 73.3%), followed by SIFT (34.19% and 62.71%). The AUC analysis showed a significance overall performance of our suggested model compared to the selected SNP-based pathogenicity detection tool (P = 0.046). Conclusion. Our suggested model is comparable to the well-established SNP-based pathogenicity detection tools that can appropriately reflect the role of a disease-associated SNP in both local and global structures. Although the accuracy of our suggested model is not relatively high, the functional impact of the pathogenic mutations is highlighted at the protein level, which improves the understanding of the molecular basis of mutation pathogenesis. ","PeriodicalId":37545,"journal":{"name":"Genetics Research International","volume":"2013 ","pages":"546909"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2013/546909","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31700996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

Diagnostic genetics at a distance: von hippel-lindau disease and a novel mutation. 远距离诊断遗传学:希佩尔-林道病和一种新的突变。

Genetics Research International Pub Date : 2013-01-01 Epub Date: 2013-08-26 DOI: 10.1155/2013/189196

Clare Brookes, Debra O Prosser, Jennifer M Love, R J McKinlay Gardner, Donald R Love

引用次数: 0

Arrhythmogenic right ventricular dysplasia/cardiomyopathy type 1: a light on molecular mechanisms. 致心律失常性右心室发育不良/心肌病 1 型：分子机制之光。

Genetics Research International Pub Date : 2013-01-01 Epub Date: 2013-12-12 DOI: 10.1155/2013/460805

Koen L A Vanderschuren, Tom Sieverink, Ronald Wilders

引用次数: 0

PCR-SSCP Variation of IGF1 and PIT1 Genes and Their Association with Estimated Breeding Values of Growth Traits in Makooei Sheep. 马库伊羊IGF1和PIT1基因的PCR-SSCP变异及其与生长性状育种价值的关系

Genetics Research International Pub Date : 2013-01-01 Epub Date: 2013-12-09 DOI: 10.1155/2013/272346

Masoud Negahdary, Abbas Hajihosseinlo, Marziyeh Ajdary

{"title":"PCR-SSCP Variation of IGF1 and PIT1 Genes and Their Association with Estimated Breeding Values of Growth Traits in Makooei Sheep.","authors":"Masoud Negahdary, Abbas Hajihosseinlo, Marziyeh Ajdary","doi":"10.1155/2013/272346","DOIUrl":"https://doi.org/10.1155/2013/272346","url":null,"abstract":"Molecular biology techniques genetic improvement by facilitating identification, mapping and analysis of polymorphism of genes by encoding proteins that act on metabolic pathways involved in economically interesting traits. This use of genetic markers can aid identification of those animals with the highest breeding values in sheep. On the basis of sheep genome mapping, information was examined on the ovine IGF1 and PIT1 genes as a possible genetic marker for growth traits in sheep. The current study was designed to estimate the frequencies of putative IGF-1 and PIT-1 genes SNPs and investigate associations with calculated EBVs of growth traits in Makooei sheep. PCR-SSCP analysis of the exon1 of IGF-I gene and include a part of intron2, exon3 and a part of intron3 and PIT-1 gene revealed the following banding patterns; three (AA, AG, GG) and four AA (p1), AB (p2), CC (p3), CD (p4), banding patterns respectively. Results from this study demonstrated higher performance of AA animals in BW and GBW, and AG animal in WW and W6 that may be related to the role of IGF-1 at the pre-puberty and puberty stages. Also higher performance of p3 animals in W9, YW and GSN, and p1 animal in GNY may be related to the PIT-1 role in post-puberty. ","PeriodicalId":37545,"journal":{"name":"Genetics Research International","volume":"2013 ","pages":"272346"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2013/272346","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31993312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 20

Immunopathogenic Role of Herpes Simplex Virus in Behçet's Disease. 单纯疱疹病毒在白塞氏病中的免疫致病作用

Genetics Research International Pub Date : 2013-01-01 Epub Date: 2013-11-24 DOI: 10.1155/2013/638273

Do Young Kim, Suhyun Cho, Min Ju Choi, Seonghyang Sohn, Eun-So Lee, Dongsik Bang

引用次数: 0

Skewed Helper T-Cell Responses to IL-12 Family Cytokines Produced by Antigen-Presenting Cells and the Genetic Background in Behcet's Disease. 白塞病中抗原呈递细胞对IL-12家族细胞因子的偏斜辅助t细胞应答及其遗传背景

Genetics Research International Pub Date : 2013-01-01 Epub Date: 2013-12-30 DOI: 10.1155/2013/363859

Jun Shimizu, Fumio Kaneko, Noboru Suzuki

引用次数: 16

Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner's Syndrome. 48例埃及特纳氏综合征患者的隐性Y染色体镶嵌现象。

Genetics Research International Pub Date : 2013-01-01 Epub Date: 2013-07-28 DOI: 10.1155/2013/463529

Mervat M El-Eshmawy, Sohier Yahia, Faeza A El-Dahtory, Sahar Hamed, El Hadidy M El Hadidy, Mohamed Ragab

{"title":"Hidden Y Chromosome Mosaicism in 48 Egyptian Patients with Turner's Syndrome.","authors":"Mervat M El-Eshmawy, Sohier Yahia, Faeza A El-Dahtory, Sahar Hamed, El Hadidy M El Hadidy, Mohamed Ragab","doi":"10.1155/2013/463529","DOIUrl":"https://doi.org/10.1155/2013/463529","url":null,"abstract":"Background. The presence of Y chromosome material in Turner's syndrome (TS) patients is a risk factor for the development of gonadoblastoma. Although conventional cytogenetic analysis is the definitive diagnosis of TS, low level Y chromosome mosaicism may be missed. Molecular analysis has demonstrated a higher proportion of mosaicism, but there is controversy regarding the prevalence of Y chromosome-derived material in those patients. Aim and Methods. This study was conducted to investigate the prevalence of hidden Y chromosome mosaicism in 48 TS Egyptian patients using polymerase chain reaction (PCR) for molecular DNA analysis of SRY gene and compare our results with those in the literature. Results. None of TS patients had a cytogenetically obvious Y chromosome; Y chromosome material was detected only at molecular analysis. SRY gene was found in 9 TS patients (18.75%) with the classical 45,X karyotype, whereas all other patients were SRY negative. Conclusion. Cytogenetically undetected Y chromosome mosaicism is common in TS patients; these data reinforce the need for adequate diagnosis of Y chromosome material in those patients. Molecular screening for Y chromosome-derived DNA should be routinely carried out in all TS patients. ","PeriodicalId":37545,"journal":{"name":"Genetics Research International","volume":"2013 ","pages":"463529"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2013/463529","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31689599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria. 阿尔及利亚西北地区皮粘膜静脉畸形患者缺乏TEK基因突变。

Genetics Research International Pub Date : 2013-01-01 Epub Date: 2013-12-09 DOI: 10.1155/2013/784789

Nabila Brahami, Mourad Aribi, Badr-Eddine Sari, Philippe Khau Van Kien, Isabelle Touitou, Gérard Lefranc, Mouna Barat-Houari

{"title":"Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria.","authors":"Nabila Brahami, Mourad Aribi, Badr-Eddine Sari, Philippe Khau Van Kien, Isabelle Touitou, Gérard Lefranc, Mouna Barat-Houari","doi":"10.1155/2013/784789","DOIUrl":"https://doi.org/10.1155/2013/784789","url":null,"abstract":"Background. Venous malformations (VM) result from an error in vascular morphogenesis. The first gene suspected in their development is the TEK gene (tyrosine kinase, endothelial). Mutations of this gene have been identified in several Belgian families with a dominant form of the disease. Therefore, we investigated whether mutations in this TEK gene could explain the MV development in patients of families from Tlemcen region (north-western Algeria). Methods. Genomic DNA was extracted from leucocytes of ten patients. The search for mutations in all the 23 exons and in the 5' and 3' intronic sequences flanking the TEK gene was performed using PCR amplification and direct sequencing of amplified genomic DNA. Additionally, a search for somatic mutations of the gene TEK was performed on a biopsy of the venous malformation from one of the ten eligible patients. Results. The sequencing of the 23 exons of the TEK gene revealed neither germinal mutation in our ten patients nor somatic mutation in the tissue of the biopsy. Conclusion. The absence of mutation in the TEK gene in the population studied suggests that the TEK gene is not necessarily involved in the onset of VM; its association with these malformations may differ from one population to another. ","PeriodicalId":37545,"journal":{"name":"Genetics Research International","volume":"2013 ","pages":"784789"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2013/784789","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31996612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6

DNA methylation pattern as important epigenetic criterion in cancer. DNA甲基化模式是癌症重要的表观遗传标准。

Genetics Research International Pub Date : 2013-01-01 Epub Date: 2013-12-23 DOI: 10.1155/2013/317569

Mehrdad Ghavifekr Fakhr, Majid Farshdousti Hagh, Dariush Shanehbandi, Behzad Baradaran

引用次数: 88