J. S. Campos, K. F. Santos, C. Costa, J. Barros, V. Gonçalves, L.P. Assunção, A. Reis, R. Santos
Type 2 diabetes mellitus (T2DM) is a chronic, complex, multifactorial and polygenic disease, constituting one of the greatest public health challenges worldwide. The genetic background has been shown to strongly influence the disease’s susceptibility. We performed genetic screening of risk-variants for T2DM and complications in the Brazilian population. This systematic review is registered in the PROSPERO platform under number CRD42020153032. The searches were conducted in Virtual health library (BVS), EMBASE, Pubmed/NCBI, Scopus, and Web of Science databases, including only case-control studies that related genetic polymorphisms with the risk of developing the disease in the Brazilian population. Among the search results, we also extracted data regarding the susceptibility of developing macro/microvascular complications. Sixteen case-control studies were included, of which 10 addressed T2DM susceptibility and six the disease complications. A total of 4122 individuals were
2型糖尿病(T2DM)是一种慢性、复杂、多因素和多基因疾病，是全球最大的公共卫生挑战之一。遗传背景已被证明对这种疾病的易感性有很大影响。我们对巴西人群中T2DM和并发症的风险变异进行了遗传筛查。本系统综述已在PROSPERO平台注册，编号为CRD42020153032。检索是在Virtual health library (BVS)、EMBASE、Pubmed/NCBI、Scopus和Web of Science数据库中进行的，仅包括巴西人群中遗传多态性与发病风险相关的病例对照研究。在检索结果中，我们还提取了有关发生大/微血管并发症的易感性的数据。纳入16项病例对照研究，其中10项涉及T2DM易感性，6项涉及疾病并发症。共4122人
{"title":"Research Article Genetic epidemiology of Type 2 diabetes mellitus and complications in the Brazilian population","authors":"J. S. Campos, K. F. Santos, C. Costa, J. Barros, V. Gonçalves, L.P. Assunção, A. Reis, R. Santos","doi":"10.4238/gmr18969","DOIUrl":"https://doi.org/10.4238/gmr18969","url":null,"abstract":"Type 2 diabetes mellitus (T2DM) is a chronic, complex, multifactorial and polygenic disease, constituting one of the greatest public health challenges worldwide. The genetic background has been shown to strongly influence the disease’s susceptibility. We performed genetic screening of risk-variants for T2DM and complications in the Brazilian population. This systematic review is registered in the PROSPERO platform under number CRD42020153032. The searches were conducted in Virtual health library (BVS), EMBASE, Pubmed/NCBI, Scopus, and Web of Science databases, including only case-control studies that related genetic polymorphisms with the risk of developing the disease in the Brazilian population. Among the search results, we also extracted data regarding the susceptibility of developing macro/microvascular complications. Sixteen case-control studies were included, of which 10 addressed T2DM susceptibility and six the disease complications. A total of 4122 individuals were","PeriodicalId":12518,"journal":{"name":"Genetics and Molecular Research","volume":"1 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70934829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C. Arican, G. Gokdemir, M. Gokdemir, B. Yokuş, E. Taşdemir, A. Şermet
{"title":"Research Article Curcumin reduced diabetic nephropathy in a rat model","authors":"C. Arican, G. Gokdemir, M. Gokdemir, B. Yokuş, E. Taşdemir, A. Şermet","doi":"10.4238/gmr19026","DOIUrl":"https://doi.org/10.4238/gmr19026","url":null,"abstract":"","PeriodicalId":12518,"journal":{"name":"Genetics and Molecular Research","volume":"1 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70935350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C. P. Targueta, R. S. Braga-Ferreira, A. D. de Melo, J. S. de Curcio, R. Nunes, R. O. Dias, F. Mello-Andrade, D. Silva, E. Silveira-Lacerda, T. G. Castro, T. Pedroso, L. Pereira, A. F. Mendonça, R. Almeida, V. L. Silva, M. Telles
The SARS-CoV-2 pandemic has demonstrated the need for genomic epidemiology surveillance. To date, various methodologies have been applied, including metagenomic approaches and amplicon-based sequencing associated with high-throughput sequencing platforms. We adapted some details in amplicon-based sequencing using a SARS-CoV-2 community panel (Illumina AmpliSeq), with additional modifications for balanced and high-quality sequencing using the MiSeq platform. The modified protocol was used to detect circulating SARS-CoV-2 variants in Goias state, Brazil. Initially, RNA samples were obtained from swab samples from 15 patients from the state of Goias, Brazil, in November/2020 and February/2021 to validate protocol steps. The libraries were prepared following AmpliSeq for Illumina workflow with modifications;subsequently, we analyzed 305 positive samples collected from the state of Goias from December 2020 to July 2021. For protocol improvement, we removed the need to treat samples with DNAse and demonstrated the importance of quantification by qPCR before and after library dilution. No fragmentation pattern was observed in the samples analyzed with Bioanalyzer. The libraries returned sequencing results that were used for genome assembly and variant detection. We were able to assemble SARS-CoV-2 genomes from 318 samples, which were used to identify 13 variants of coronavirus circulating in Goias throughout those months. Variants of concern, such as Alpha (B.1.1.7), Gamma (P.1) and Delta (B.1.617.2) were detected;the latter was detected at first in Goias in April 2021. The modifications in the workflow we developed were successfully applied to detect SARS-CoV-2 variants, resulting in high coverage genome assembly, and they can be used to increase the number of genome sequences and aid in epidemiological surveillance in Brazil.
{"title":"Research Article Optimization of Illumina AmpliSeq protocol for SARS-CoV-2 and detection of circulating variants in Goiás State, Brazil from November 2020 to July 2021","authors":"C. P. Targueta, R. S. Braga-Ferreira, A. D. de Melo, J. S. de Curcio, R. Nunes, R. O. Dias, F. Mello-Andrade, D. Silva, E. Silveira-Lacerda, T. G. Castro, T. Pedroso, L. Pereira, A. F. Mendonça, R. Almeida, V. L. Silva, M. Telles","doi":"10.4238/gmr19018","DOIUrl":"https://doi.org/10.4238/gmr19018","url":null,"abstract":"The SARS-CoV-2 pandemic has demonstrated the need for genomic epidemiology surveillance. To date, various methodologies have been applied, including metagenomic approaches and amplicon-based sequencing associated with high-throughput sequencing platforms. We adapted some details in amplicon-based sequencing using a SARS-CoV-2 community panel (Illumina AmpliSeq), with additional modifications for balanced and high-quality sequencing using the MiSeq platform. The modified protocol was used to detect circulating SARS-CoV-2 variants in Goias state, Brazil. Initially, RNA samples were obtained from swab samples from 15 patients from the state of Goias, Brazil, in November/2020 and February/2021 to validate protocol steps. The libraries were prepared following AmpliSeq for Illumina workflow with modifications;subsequently, we analyzed 305 positive samples collected from the state of Goias from December 2020 to July 2021. For protocol improvement, we removed the need to treat samples with DNAse and demonstrated the importance of quantification by qPCR before and after library dilution. No fragmentation pattern was observed in the samples analyzed with Bioanalyzer. The libraries returned sequencing results that were used for genome assembly and variant detection. We were able to assemble SARS-CoV-2 genomes from 318 samples, which were used to identify 13 variants of coronavirus circulating in Goias throughout those months. Variants of concern, such as Alpha (B.1.1.7), Gamma (P.1) and Delta (B.1.617.2) were detected;the latter was detected at first in Goias in April 2021. The modifications in the workflow we developed were successfully applied to detect SARS-CoV-2 variants, resulting in high coverage genome assembly, and they can be used to increase the number of genome sequences and aid in epidemiological surveillance in Brazil.","PeriodicalId":12518,"journal":{"name":"Genetics and Molecular Research","volume":"1 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70935639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Research Article Cassava Periclinal Chimera Vigor: A theory on its origin","authors":"N. Nassar","doi":"10.4238/gmr19079","DOIUrl":"https://doi.org/10.4238/gmr19079","url":null,"abstract":"","PeriodicalId":12518,"journal":{"name":"Genetics and Molecular Research","volume":"1 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70936537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Research Article Molecular karyotyping of 1,295 spontaneous consecutive abortions by sequential analysis with QF-PCR, HGQ-PCR and SNP-array","authors":"C. D. de Sousa, H. B. Pena, J. Rocha, S. Pena","doi":"10.4238/gmr19082","DOIUrl":"https://doi.org/10.4238/gmr19082","url":null,"abstract":"","PeriodicalId":12518,"journal":{"name":"Genetics and Molecular Research","volume":"1 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70936643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
T. L. Silva, V.L.O. Cardoso, N. Costa, L. Venâncio, L. R. Pereira, C. Bonini-Domingos
{"title":"Research Article Hemoglobin protein profile as a parameter for taxonomic analysis in Brazilian Testudinidae","authors":"T. L. Silva, V.L.O. Cardoso, N. Costa, L. Venâncio, L. R. Pereira, C. Bonini-Domingos","doi":"10.4238/gmr18977","DOIUrl":"https://doi.org/10.4238/gmr18977","url":null,"abstract":"","PeriodicalId":12518,"journal":{"name":"Genetics and Molecular Research","volume":"1 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70934756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
R. C. de Melo, P. H. Cerutti, F.A.C. Nardello, A. F. Guidolin, J. Da Silva, J. Coimbra
Knowledge of the genetic structure of a trait shapes the entire strategy of a breeding program. In this study, the purpose was to determine the additive and non-additive effects that affect the genetic control of common bean roots. A field experiment, with 75 treatments in a partially balanced incomplete block design, was carried out in the 2018/19 growing season. The treatments consisted of backcross progenies (L1 P1 x F2, L2 P2 x F2 and L3 F1 x F2) resulting from a Triple Test Cross mating design, with the Mesoamerican parents P1-BAF50 (accession of the active germplasm bank) and P2-IPR Uirapuru (commercial cultivar). The trait root distribution was assessed based on the soil excavation method, in situ. To this end, trenches were opened under each plant (two plants per replication, in each treatment) and a grid was inserted in the open profile. Pictures were taken of the grid in the trench, based on which the root distribution (percentage) could be quantitatively assessed. To compare root and shoot biomass, the numbers of pods and grains were counted at harvest. The treatment factor was partitioned into genetic effects (additive, dominant and epistatic) by the establishment of predictive functions. The additive genetic effect was the most
{"title":"Research Article Genetic structure of root distribution in genotype crosses of Mesoamerican common bean","authors":"R. C. de Melo, P. H. Cerutti, F.A.C. Nardello, A. F. Guidolin, J. Da Silva, J. Coimbra","doi":"10.4238/gmr18986","DOIUrl":"https://doi.org/10.4238/gmr18986","url":null,"abstract":"Knowledge of the genetic structure of a trait shapes the entire strategy of a breeding program. In this study, the purpose was to determine the additive and non-additive effects that affect the genetic control of common bean roots. A field experiment, with 75 treatments in a partially balanced incomplete block design, was carried out in the 2018/19 growing season. The treatments consisted of backcross progenies (L1 P1 x F2, L2 P2 x F2 and L3 F1 x F2) resulting from a Triple Test Cross mating design, with the Mesoamerican parents P1-BAF50 (accession of the active germplasm bank) and P2-IPR Uirapuru (commercial cultivar). The trait root distribution was assessed based on the soil excavation method, in situ. To this end, trenches were opened under each plant (two plants per replication, in each treatment) and a grid was inserted in the open profile. Pictures were taken of the grid in the trench, based on which the root distribution (percentage) could be quantitatively assessed. To compare root and shoot biomass, the numbers of pods and grains were counted at harvest. The treatment factor was partitioned into genetic effects (additive, dominant and epistatic) by the establishment of predictive functions. The additive genetic effect was the most","PeriodicalId":12518,"journal":{"name":"Genetics and Molecular Research","volume":"1 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70934849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Research Article Chlorpyrifos-induced dopaminergic damage in Drosophila melanogaster assessed by gene expression, AChE assay, and negative geotaxis using a new feeding device","authors":"H.H. Abdulbaki, M. A. Al-Deeb","doi":"10.4238/gmr19056","DOIUrl":"https://doi.org/10.4238/gmr19056","url":null,"abstract":"","PeriodicalId":12518,"journal":{"name":"Genetics and Molecular Research","volume":"1 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70936152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Minzhenkova, D. Yurchenko, N. Semenova, Z. Markova, A. A. Tarlycheva, N. V. Shilova
{"title":"Research Article Characterization of a complex chromosomal rearrangement in a girl with PURA syndrome","authors":"M. Minzhenkova, D. Yurchenko, N. Semenova, Z. Markova, A. A. Tarlycheva, N. V. Shilova","doi":"10.4238/gmr19065","DOIUrl":"https://doi.org/10.4238/gmr19065","url":null,"abstract":"","PeriodicalId":12518,"journal":{"name":"Genetics and Molecular Research","volume":"1 1","pages":""},"PeriodicalIF":0.4,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70936583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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