Nucleotide Sequencing
Mostrando 13-24 de 1851 artigos, teses e dissertações.
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13. Whole-exome sequencing in familial keratoconus: the challenges of a genetically complex disorder
RESUMO Objetivos: As causas genéticas subjacentes do ceratocone são essencialmente desconhecidas. Aqui, realizamos o sequenciamento de todo exoma de duas famílias brasileiras com ceratocone. Métodos: O sequenciamento total do exoma foi realizado em 6 indivíduos com ceratocone de duas famílias distintas do sul do Brasil. Variantes patogênicas foram i
Arq. Bras. Oftalmol.. Publicado em: 29/08/2019
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14. Characterization and Differentiation of Chicken Mycoplasma Isolates Using 16S-23S Intergenic Spacer Region Sequencing
ABSTRACT The objective of this study was to identify the species and characterize the genetic relationships among mycoplasma isolates from commercial layer hen flocks using 16S-23S rDNA intergenic spacer region (IGSR) sequencing. Twenty-one isolates were obtained from samples collected from commercial layer flocks in four Brazilian states: São Paulo, Minas
Braz. J. Poult. Sci.. Publicado em: 19/08/2019
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15. Effects of melanocortin 1 receptor (MC1R) gene polymorphisms on plumage color in mule ducks
ABSTRACT The objective of the present study was to investigate the effect of single nucleotide polymorphism (SNP) of the melanocortin 1 receptor (MC1R) gene on plumage coloration in mule ducks. PCR-high-resolution melting analysis (PCR-HRM) and DNA sequencing were used to identify the SNP variability of the MC1R gene in white common ducks. Three non-synonymo
R. Bras. Zootec.. Publicado em: 22/07/2019
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16. The ERBB2 gene polymorphisms rs2643194, rs2934971, and rs1058808 are associated with increased risk of gastric cancer
Gastric cancer (GC) is the third most lethal type of cancer worldwide. Single nucleotide polymorphisms (SNPs) in regulatory sites or coding regions can modify the expression of genes involved in gastric carcinogenesis, as ERBB2, which encodes for the tyrosine-kinase receptor HER-2. The aim of this work was to analyze the association of the polymorphisms: rs2
Braz J Med Biol Res. Publicado em: 16/05/2019
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17. Lack of quadruple and quintuple mutant alleles associated with sulfadoxine-pyrimethamine resistance in Plasmodium vivax isolates from Brazilian endemic areas
BACKGROUND AND OBJECTIVE Brazil is responsible for a large number of Plasmodium vivax cases in America. Given the emergence of P. vivax parasites resistant to chloroquine and the effectiveness of antifolates in vivax malaria treatment together with a correlation between mutations in P. vivax dhfr and dhps genes and SP treatment failure, the point mutations
Mem. Inst. Oswaldo Cruz. Publicado em: 04/02/2019
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18. Phylogenomic and single nucleotide polymorphism analyses revealed the hybrid origin of Spondias bahiensis (family Anacardiaceae): de novo genome sequencing and comparative genomics
Abstract The genus Spondias (family Anacardiaceae) comprises 19 taxa, ten of which occur in Neotropical regions. Spondias bahiensis has been suggested to be a hybrid, although initial evidence does not support this hypothesis. The aim of this study was to test the hypothesis of the hybrid origin of S. bahiensis using high-throughput sequencing with single nu
Genet. Mol. Biol.. Publicado em: 29/11/2018
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19. Systematic molecular analysis of hemophilia A patients from Colombia
Abstract Hemophilia A (HA) is an X-linked recessive disorder and the second most common coagulation disorder with an incidence of 1 in 5,000 live born males. Worldwide, there are 178,500 affected individuals, 60% with the severe form of the disease. Intron 22 and 1 inversions (Inv22 and Inv1) are the most frequent molecular alterations found in severe HA pat
Genet. Mol. Biol.. Publicado em: 14/11/2018
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20. Development and validation of a modified TaqMan based real-time PCR assay targeting the lipl32 gene for detection of pathogenic Leptospira in canine urine samples
Abstract A modified TaqMan real-time polymerase chain reaction targeting a 138 bp fragment within the lipl32 gene was developed to identify exclusively pathogenic Leptospira spp. in dog urine samples. Thirty-five samples from dogs with suspected clinical leptospirosis and 116 samples from apparently healthy dogs were tested for presence of leptospiral DNA us
Braz. J. Microbiol.. Publicado em: 2018-09
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21. Phylogenetic analysis and genotype distribution of Hepatitis B Virus (HBV) in Roraima, Brazil
ABSTRACT Hepatitis B virus (HBV) infection is a serious global health problem. HBV has a high viral genetic diversity, with 10 genotypes recognized. In Brazil, the Roraima State is the third in the Northern region regarding the number of hepatitis B cases. On the other hand, few data on HBV genotyping and phylogenetic analysis are available. The purpose of t
Rev. Inst. Med. trop. S. Paulo. Publicado em: 19/07/2018
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22. Development of a comprehensive noninvasive prenatal test
Abstract Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without parental genotype information. We analyzed 45 pregnancies, 40 mock samples, and eight mother-child pairs to gene
Genet. Mol. Biol.. Publicado em: 16/07/2018
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23. Heterozygous HTRA1 missense mutation in CADASIL-like family disease
The aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to screen for related genes. The clinical and imaging data of a CADASIL-like pati
Braz J Med Biol Res. Publicado em: 15/03/2018
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24. HSF1 and HSPA6 as functional candidate genes associated with heat tolerance in Angus cattle
ABSTRACT The purpose of this study was to access and characterize single nucleotide polymorphisms (SNP) located within the HSF1 and HSPA6 candidate genes for adaptability in Angus breed raised in subtropical climate. Samples of DNA from 20 animals representing extreme phenotypes for adaptability traits were obtained. Sequence variations in the candidate gene
R. Bras. Zootec.. Publicado em: 05/03/2018