Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 3.339
Filter
1.
Mem. Inst. Oswaldo Cruz ; 115: e190401, 2020. tab
Article in English | LILACS, SES-SP | ID: biblio-1135285

ABSTRACT

Bacillus Calmette Guerin (BCG) vaccines comprise a family of related strains. Whole genome sequencing has allowed the better characterisation of the differences between many of the BCG vaccines. As sequencing technologies improve, updating of publicly available sequence data becomes common practice. We hereby announce the draft genome of four commonly used BCG vaccines in Brazil, Argentina and Venezuela.


Subject(s)
Humans , BCG Vaccine/genetics , Chromosome Mapping , Mycobacterium bovis/genetics , Argentina , Venezuela , Brazil , Molecular Sequence Data , Base Sequence , Polymorphism, Single Nucleotide
2.
Neotrop. ichthyol ; 18(3): e190114, 2020. tab, graf, ilus, mapas
Article in English | ID: biblio-1135397

ABSTRACT

The coastal basins in Northeastern Brazil used in this study make up two different ecoregions for freshwater fishes (Amazonas estuary and coastal drainages, and Parnaiba) and two areas of endemism for Characiformes (Maranhão and Parnaíba), and exhibits a diversified yet poorly explored freshwater fish fauna. The population structure and biogeography of two migratory freshwater fish species that are commercially exploited from Maranhão and Parnaíba regions were herein analyzed. Molecular sequence data and statistical analyses were used to estimate haplotypes networks and lineage divergence times and correlated with hydrographic history of drainage and paleodrainages of the region. A total of 171 sequences was produced for both species, Schizodon dissimilis (coI, n = 70) and Prochilodus lacustris (D-loop, n = 101). All analyses identified the presence of three genetically delimited groups of S. dissimilis and six groups of P. lacustris. The lineage time analyses indicate diversification among these species within the past 1 million year. The results indicate the influence of geodispersal in the formation of the ichthyofauna in the studied area through headwater stream capture events and reticulated connections between the mouths of rivers along the coastal plain due to eustatic sea level fluctuations.(AU)


As bacias costeiras do nordeste do Brasil usadas neste estudo compõem duas ecorregiões diferentes para peixes de água doce (Estuário do Amazonas e drenagens costeiras e Parnaíba) e duas áreas de endemismo para Characiformes (Maranhão e Parnaíba), exibindo uma diversificada e ainda pouco explorada fauna de peixes de água doce. A estrutura populacional e biogeografia de duas espécies migradoras de peixes de água doce exploradas comercialmente nas regiões do Maranhão e Parnaíba foram analisadas. Dados de sequências moleculares e análises estatísticas foram utilizados para estimar redes de haplótipos e tempos de divergência entre linhagens, e foram correlacionados com a história hidrográfica das drenagens e paleodrenagens da região. Um total de 171 sequências foram geradas para ambas espécies, Schizodon dissimilis (coI, n = 70) e Prochilodus lacustris (D-loop, n = 101). Todas análises identificaram a presença de três grupos geneticamente delimitados para S. dissimilis e seis grupos para P. lacustris. A análise de tempo de divergência das linhagens indicou uma diversificação entre estas espécies nos últimos 1 Ma. Os resultados indicam influência da geodispersão na formação da ictiofauna do Maranhão, devido eventos de capturas de cabeceira e conexões reticuladas entre as fozes dos rios ao longo da planície costeira devido às flutuações eustáticas do nível do mar.(AU)


Subject(s)
Animals , Biogeography , Characiformes/genetics , Fishes/genetics , Molecular Sequence Data , Sea Level , Phylogeography
3.
Rev. bras. parasitol. vet ; 28(3): 451-457, July-Sept. 2019. tab, graf
Article in English | LILACS | ID: biblio-1042527

ABSTRACT

Abstract The msp4 gene of A. marginale is unicodon, stable and mostly homogeneous, being considered as a useful marker for phylogeographic characterization of this bacterium. The objective of this work was to analyze the phylogeography of A. marginale based on the msp4 gene in beef cattle from the Brazilian Pantanal, compared to those found in other regions worldwide. The blood samples investigated were collected from 400 animals (200 cows and 200 calves) reared in five extensive breeding farms in this region. The results indicated that of the evaluated samples, 56.75% (227/400) were positive for A. marginale based on the msp1β gene by quantitatitve PCR (qPCR), while 8.37% (19/227) were positive for the msp4 gene in the conventional PCR. In the Network distance analysis, 14 sequences from the Brazilian Pantanal were grouped into a single group with those from Thailand, India, Spain, Colombia, Parana (Brazil), Mexico, Portugal, Argentina, China, Venezuela, Australia, Italy and Minas Gerais (Brazil). Among 68 sequences from Brazil and the world, 15 genotypes were present while genotype number one (#1) was the most distributed worldwide. Both Splitstree and network analyses showed that the A. marginale msp4 sequences detected in beef cattle from the Brazilian Pantanal showed low polymorphism, with the formation of one genogroup phylogenetically related to those found in ruminants from South and Central America, Europe, and Asia.


Resumo O gene msp4 de A. marginale é unicodon, estável e pouco heterogêneo, sendo considerado como um marcador útil para caracterização filogeográfica desta bactéria. Este trabalho teve como objetivo analisar a filogeografia de A. marginale com base no gene msp4 em bovinos de corte do Pantanal Brasileiro, comparativamente a outra regiões do mundo. Alíquotas de sangue foram colhidas de 400 bovinos (200 vacas e 200 bezerros) em cinco propriedades de cria e recria extensiva. Como resultado, 56,75% (227/400) mostraram-se positivas para A. marginale pela qPCR para o gene msp1β e destas, 8,37% (19/227) amostras foram positivas na PCR convencional para o gene msp4. Na análise de distância Network, 14 sequências do Pantanal brasileiro foram agrupadas em um único grupo com as da Thailândia, Índia, Espanha, Colômbia, Paraná (Brasil), México, Portugal, Argentina, China, Venezuela, Austrália, Italia e Minas Gerais (Brasil). Dentre 68 sequências do Brasil e do mundo, constatou-se a presença de 15 genótipos, sendo o genótipo número um (#1) o mais distribuído. As sequências msp4 de A. marginale detectadas em bovinos de corte no Pantanal brasileiro apresentaram baixo polimorfismo com formação de dois genogrupos filogeneticamente relacionados àqueles encontrados em ruminantes de países das América do Sul e Central, Europa e Ásia.


Subject(s)
Animals , Male , Female , Bacterial Proteins/genetics , Cattle/microbiology , Anaplasma marginale/genetics , Phylogeography/methods , Membrane Proteins/genetics , Asia , Americas , Brazil , DNA, Bacterial/genetics , Molecular Sequence Data , Polymerase Chain Reaction , Amino Acid Sequence , Anaplasma marginale/isolation & purification , Europe , Genotype
4.
Braz. j. microbiol ; 49(1): 20-28, Jan.-Mar. 2018. tab, graf
Article in English | LILACS | ID: biblio-889213

ABSTRACT

ABSTRACT This work aimed to characterize 20 isolates obtained from upland rice plants, based on phenotypic (morphology, enzymatic activity, inorganic phosphate solubilization, carbon source use, antagonism), genotypic assays (16S rRNA sequencing) and plant growth promotion. Results showed a great morphological, metabolic and genetic variability among bacterial isolates. All isolates showed positive activity for catalase and protease enzymes and, 90% of the isolates showed positive activity for amylase, catalase and, nitrogenase. All isolates were able to metabolize sucrose and malic acid in contrast with mannitol, which was metabolized only by one isolate. For the other carbon sources, we observed a great variability in its use by the isolates. Most isolates showed antibiosis against Rhizoctonia solani (75%) and Sclerotinia sclerotiorum (55%) and, 50% of them showed antibiosis against both pathogens. Six isolates showed simultaneous ability of antibiosis, inorganic phosphate solubilization and protease activity. Based on phylogenetic analysis of the 16S rRNA gene all the isolates belong to Bacillus genus. Under greenhouse conditions, two isolates (S4 and S22) improved to about 24%, 25%, 30% and 31% the Total N, leaf area, shoot dry weight and root dry weight, respectively, of rice plants, indicating that they should be tested for this ability under field conditions.


Subject(s)
Bacteria/isolation & purification , Chryseobacterium/genetics , Oryza/growth & development , Soil Microbiology , Antibiosis , Bacterial Physiological Phenomena , Bacteria/classification , Bacteria/genetics , Base Composition , Base Sequence , Chryseobacterium/classification , Chryseobacterium/drug effects , Chryseobacterium/isolation & purification , DNA, Bacterial/genetics , Molecular Sequence Data , Oryza/microbiology , Phylogeny
5.
Braz. j. microbiol ; 49(1): 16-17, Jan.-Mar. 2018.
Article in English | LILACS | ID: biblio-889216

ABSTRACT

ABSTRACT Kosakonia cowanii type strain 888-76T is a human pathogen which was originally isolated from blood as NIH group 42. In this study, we report the complete genome sequence of K. cowanii 888-76T. 888-76T has 1 chromosome and 2 plasmids with a total genome size of 4,857,567 bp and C+G 56.15%. This genome sequence will not only help us to understand the virulence features of K. cowanii 888-76T but also provide us the useful information for the study of evolution of Kosakonia genus.


Subject(s)
Humans , Genome, Bacterial , Enterobacteriaceae/isolation & purification , Enterobacteriaceae/genetics , Enterobacteriaceae Infections/microbiology , Phylogeny , Plasmids/genetics , Base Composition , DNA, Bacterial/genetics , Molecular Sequence Data , Base Sequence , Enterobacteriaceae/classification
6.
Braz. j. microbiol ; 49(1): 13-15, Jan.-Mar. 2018. tab, graf
Article in English | LILACS | ID: biblio-889194

ABSTRACT

ABSTRACT As the largest genus in Actinobacteria family, Streptomyces species have the ability to synthesize numerous compounds of diverse structures with bioactivities. Streptomyces mangrovisoli MUSC 149T was previously isolated as a novel streptomycete from mangrove forest in east coast of Peninsular Malaysia. The high quality draft genome of MUSC 149T comprises 9,165,825 bp with G + C content of 72.5%. Through bioinformatics analysis, 21 gene clusters identified in the genome were associated with the production of bioactive secondary metabolites. The presence of these biosynthetic gene clusters in MUSC 149T suggests the potential exploitation of the strain for production of medically important compounds.


Subject(s)
Streptomyces/isolation & purification , Genome, Bacterial , Geologic Sediments/microbiology , Phylogeny , Streptomyces/classification , Streptomyces/genetics , Bacterial Proteins/genetics , Bacterial Proteins/metabolism , Base Composition , DNA, Bacterial/genetics , Molecular Sequence Data , Base Sequence , Malaysia
7.
Braz. j. microbiol ; 49(1): 5-6, Jan.-Mar. 2018.
Article in English | LILACS | ID: biblio-889197

ABSTRACT

ABSTRACT The type strain SUR2 of the novel species Chryseobacterium limigenitum was isolated from a dehydrated sludge of the municipal sewage treatment plant in Dogoše near Maribor in Slovenia. The draft genome, with 60 contigs, 4,697,725 bp, 34.4% of G+C content, was obtained using the Illumina HiSeq 2500-1 platform. Joint Genome Institute Microbial Genome Annotation Pipeline (MGAP v.4) has identified 4322 protein-coding sequences including resistance genes against arsenic and other heavy metals. In addition, a subclass B3 metallo-β-lactamase, which confers resistance to penicillins, cephalosporins and carbapenems, was also present in the genome. The genome sequence provides important information regarding bioremediation potential and pathogenic properties of this newly identified species.


Subject(s)
Sewage/microbiology , Genome, Bacterial , Chryseobacterium/genetics , Penicillins/pharmacology , Phylogeny , Sewage/chemistry , Base Composition , DNA, Bacterial/genetics , Molecular Sequence Data , Base Sequence , Microbial Sensitivity Tests , Carbapenems/pharmacology , Chryseobacterium/isolation & purification , Chryseobacterium/classification , Chryseobacterium/drug effects , Anti-Bacterial Agents/pharmacology
8.
Braz. j. microbiol ; 49(1): 10-12, Jan.-Mar. 2018. tab
Article in English | LILACS | ID: biblio-889198

ABSTRACT

ABSTRACT Vitellibacter aquimaris D-24T (=KCTC 42708T = DSM 101732T), a halophilic marine bacterium, was isolated from seawater collected from Desaru beach, Malaysia. Here, we present the draft genome sequence of D-24T with a genome size of approximately 3.1 Mbp and G + C content of 39.93%. The genome of D-24T contains genes involved in reducing a potent greenhouse gas (N2O) in the environment and the degradation of proteinaceous compounds. Genome availability will provide insights into potential biotechnological and environmental applications of this bacterium.


Subject(s)
Seawater/microbiology , Genome, Bacterial , Flavobacteriaceae/genetics , Phylogeny , Base Composition , DNA, Bacterial/genetics , Molecular Sequence Data , Base Sequence , Flavobacteriaceae/isolation & purification , Flavobacteriaceae/classification , Malaysia
9.
Braz. j. microbiol ; 49(1): 18-19, Jan.-Mar. 2018.
Article in English | LILACS | ID: biblio-889201

ABSTRACT

ABSTRACT Bacillus anthracis strain SPV842_15 was isolated from bovine fetus, while B. anthracis strain Brazilian vaccinal was recovered from a commercial vaccine. We report here the genome sequences of both strains. The SPV842_15 genome is composed of a single circular chromosome with a length of 5,228,664 base pairs, and comprises 5911 coding sequences. In turn, the Brazilian vaccinal genome remains in 201 contigs with 5733 coding sequences. Both genomes have an overall C + G content of 35.4%, and 11 genes encoding the ribosomal RNAs (rRNAs) 5S, 16S and 23S. Only the plasmid pX01 sequence, which carries genes for toxins synthesis, was detected and completely assembled for both strains. These plasmids have a length of 181,684 base pairs and a C + G content of 32.5%. These genomic data generate insights about vaccinal B. anthracis virulence.


Subject(s)
Animals , Cattle , Bacillus anthracis/isolation & purification , Bacillus anthracis/genetics , Bacterial Vaccines/genetics , Cattle Diseases/microbiology , Genome, Bacterial , Phylogeny , Plasmids/genetics , Bacillus anthracis/classification , Base Composition , DNA, Bacterial/genetics , Molecular Sequence Data , Bacterial Vaccines/isolation & purification , Base Sequence
10.
Mem. Inst. Oswaldo Cruz ; 113(2): 80-86, Feb. 2018. tab, graf
Article in English | LILACS | ID: biblio-894891

ABSTRACT

BACKGROUND Leptospirosis is the most widespread zoonotic disease. It is caused by infection with pathogenic Leptospira species, of which over 300 serovars have been described. The accurate identification of the causative Leptospira spp. is required to ascertain the pathogenic status of the local isolates. OBJECTIVES This study aimed to obtain the complete genome sequence of a virulent Leptospira interrogans strain isolated from southern Brazil and to describe its genetic features. METHODS The whole genome was sequenced by next-generation sequencing (Ion Torrent). The genome was assembled, scaffolded, annotated, and manually reviewed. Mutations were identified based on a variant calling analysis using the genome of L. interrogans strain Fiocruz L1-130 as a reference. FINDINGS The entire genome had an average GC content of 35%. The variant calling analysis identified 119 single nucleotide polymorphisms (SNPs), from which 30 led to a missense mutation. The structural analyses identified potential evidence of genomic inversions, translocations, and deletions in both the chromosomes. MAIN CONCLUSIONS The genome properties provide comprehensive information about the local isolates of Leptospira spp., and thereby, could facilitate the identification of new targets for the development of diagnostic kits and vaccines.


Subject(s)
Phylogeny , Water Microbiology , Leptospira interrogans/isolation & purification , Leptospira interrogans/genetics , Virulence , Molecular Sequence Data , Genome, Bacterial
11.
Braz. j. med. biol. res ; 51(10): e7113, 2018. tab, graf
Article in English | LILACS | ID: biblio-951714

ABSTRACT

Dorsal root ganglia (DRG) neurons regenerate spontaneously after traumatic or surgical injury. Long noncoding RNAs (lncRNAs) are involved in various biological regulation processes. Conditions of lncRNAs in DRG neuron injury deserve to be further investigated. Transcriptomic analysis was performed by high-throughput Illumina HiSeq2500 sequencing to profile the differential genes in L4-L6 DRGs following rat sciatic nerve tying. A total of 1,228 genes were up-regulated and 1,415 down-regulated. By comparing to rat lncRNA database, 86 known and 26 novel lncRNA genes were found to be differential. The 86 known lncRNA genes modulated 866 target genes subject to gene ontology (GO) and KEGG enrichment analysis. The genes involved in the neurotransmitter status of neurons were downregulated and those involved in a neuronal regeneration were upregulated. Known lncRNA gene rno-Cntnap2 was downregulated. There were 13 credible GO terms for the rno-Cntnap2 gene, which had a putative function in cell component of voltage-gated potassium channel complex on the cell surface for neurites. In 26 novel lncRNA genes, 4 were related to 21 mRNA genes. A novel lncRNA gene AC111653.1 improved rno-Hypm synthesizing huntingtin during sciatic nerve regeneration. Real time qPCR results attested the down-regulation of rno-Cntnap lncRNA gene and the upregulation of AC111653.1 lncRNA gene. A total of 26 novel lncRNAs were found. Known lncRNA gene rno-Cntnap2 and novel lncRNA AC111653.1 were involved in neuropathic pain of DRGs after spared sciatic nerve injury. They contributed to peripheral nerve regeneration via the putative mechanisms.


Subject(s)
Animals , Male , Rats , Sciatic Nerve/metabolism , RNA, Messenger/genetics , Peripheral Nerve Injuries/metabolism , RNA, Long Noncoding/metabolism , Ganglia, Spinal/injuries , Neuralgia/metabolism , Molecular Sequence Data , Base Sequence , Gene Expression Regulation , Blotting, Western , Chromosome Mapping , Disease Models, Animal , Transcriptome , Ganglia, Spinal/physiopathology , Ganglia, Spinal/metabolism
12.
Braz. j. infect. dis ; 21(4): 424-432, July-Aug. 2017. tab, graf
Article in English | LILACS | ID: biblio-888899

ABSTRACT

Abstract Hepatitis B virus (HBV) is distributed worldwide, with geographical variations regarding prevalence of the different genotypes. The aim of this study was to determine the HBV genotypes and subgenotypes circulating in Southeast Brazil and compare the genetic sequences found with HBV sequences previously described in the world. Sequences from 166 chronic HBV carriers were analyzed using the fragment constituted by 1306 base pairs comprising surface and polymerase regions of the HBV genome. The sequences obtained were submitted to phylogenetic analysis. HBV subgenotypes A1, A2, D1-D4, F2a, and F4 were found. HBV genotype D was the most frequent, found in 99 patients (58.4%). Within this group, subgenotype D3 was the most prevalent, in 73 patients (42.9%). HBV genotype A was identified in 58 (36%) patients, subgenotype A1, in 48 (29.8%) subjects. Genotype F was identified in 9 (5.4%). According to the phylogenetic analysis, the sequences found were grouped with sequences from Europe, Asia and Middle East (subgenotypes D1, D2, D3) and sequences from Latin America and Africa (subgenotype A1). HBV D3 grouped in different clusters inside D3 clade, several of them with sequences isolated in Italy. We also identified eight families whose relatives were infected with the same HBV subgenotype, most with high similarity between sequences. In conclusion, the distribution of the HBV sequences obtained interweaved with sequences from other continents, corresponding to regions from where many immigrants came to this region, in accordance to the hypothesis that the HBV detected over there were brought during the colonization times.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Young Adult , Hepatitis B virus/genetics , Hepatitis B, Chronic/virology , Emigrants and Immigrants , Phylogeny , Brazil , DNA, Viral/genetics , Molecular Sequence Data , Sequence Analysis, DNA , Emigration and Immigration , Genotype
13.
Mem. Inst. Oswaldo Cruz ; 112(7): 514-516, July 2017. graf
Article in English | LILACS | ID: biblio-841814

ABSTRACT

The genus Mycobacterium is highly diverse and ubiquitous in nature, comprehending fast- and slow-growing species with distinct impact in public health. The plasmid-mediated horizontal gene transfer represents one of the major events in bacteria evolution. Here, we report the complete sequence of a 160,489 bp circular plasmid (pCBMA213_2) from an atypical and fast-growing environmental mycobacteria. This is a unique plasmid, in comparison with the characterised mycobacteria plasmids, harboring a type IV-like and ESX-P2 type VII secretion systems. pCBMA213_2 can be further explored for evolutionary and conjugation studies as well as a tool to manipulate DNA within this bacteria genus.


Subject(s)
Humans , Plasmids/genetics , DNA, Bacterial/genetics , Molecular Sequence Data , Type VII Secretion Systems/genetics , Nontuberculous Mycobacteria/genetics , Sequence Analysis
14.
Article in Chinese | WPRIM | ID: wpr-335157

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic etiology for two Chinese families affected with hypergonadotropic amenorrhea and normal number of antral follicles.</p><p><b>METHODS</b>Peripheral venous blood samples were collected from the families for the extraction of genomic DNA. Mutations of FSHR and LHCGR genes were screened using PCR and Sanger sequencing. Suspected pathogenic mutations were verified in other members of the families. Bioinformatics software and NCBI were used to analyze the pathogenicity of the mutations.</p><p><b>RESULTS</b>Two previously unreported homozygous mutations, c.419delA and c.1510C>T of the FSHR gene were found in the probands of family I and II, respectively. Pedigree and bioinformatics analysis suggested that both mutations were pathogenic. Literature review suggested that both families were affected with resistant ovary syndrome rather than premature ovarian failure.</p><p><b>CONCLUSION</b>Two novel mutations of the FSHR gene have been identified, which have enriched the spectrum of FSHR gene mutations and provided a basis for genetic counseling and direction for reproduction.</p>


Subject(s)
Adolescent , Adult , Asian Continental Ancestry Group , Genetics , Base Sequence , China , Female , Humans , Male , Molecular Sequence Data , Mutation , Ovarian Diseases , Diagnosis , Genetics , Pedigree , Receptors, FSH , Genetics , Young Adult
15.
Article in Chinese | WPRIM | ID: wpr-335155

ABSTRACT

<p><b>OBJECTIVE</b>To explore genetic mutations and clinical features of a pedigree affected with dopa-responsive dystonia.</p><p><b>METHODS</b>PCR and Sanger sequencing were applied to detect mutations of the GCH1 gene among 7 members from the pedigree.</p><p><b>RESULTS</b>The family was detected to have a known heterozygous mutation of the GCH1 gene (c.550C>T). For the 7 members from the pedigree, the age of onset has ranged from 13 to 60 years. The mother of the proband has carried the same mutation but was still healthy at 80. The symptoms of the other three patients were in slow progression, with diurnal fluctuation which can be improved with sleeping, dystonias of lower limbs, and tremor of both hands. Treatment with small dose of levodopa has resulted in significant improvement of clinical symptoms. By database analysis, the c.550C>T mutation was predicted as probably pathological.</p><p><b>CONCLUSION</b>The c.550C>T mutation probably underlies the disease in this pedigree. The clinical phenotypes of family members may be variable for their ages of onset. Some may even be symptom free.</p>


Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Base Sequence , DNA Mutational Analysis , Dystonic Disorders , Genetics , Female , GTP Cyclohydrolase , Genetics , Heterozygote , Humans , Male , Middle Aged , Molecular Sequence Data , Mutation , Pedigree , Phenotype , Young Adult
16.
Article in Chinese | WPRIM | ID: wpr-335154

ABSTRACT

<p><b>OBJECTIVE</b>To carry out mutation analysis for a Chinese family affected with Escobar syndrome.</p><p><b>METHODS</b>Whole exome sequencing (WES) was employed to detect potential mutation in the proband. Suspected mutations were validated by combining clinical data and result of Sanger sequencing.</p><p><b>RESULTS</b>A homozygous missense mutation c.715C>T (p.R239C) was detected in the proband and his brother who was also affected. The parents and the daughters of the proband carried the heterozygous mutation c.715C>T, while other family members did not carry the mutation.</p><p><b>CONCLUSION</b>Escobar syndrome is a rare genetic disorder. WES is able to discover genetic mutation underlying this disorder and facilitate genetic counseling and prenatal diagnosis for the affected family.</p>


Subject(s)
Abnormalities, Multiple , Genetics , Adult , Asian Continental Ancestry Group , Genetics , Base Sequence , DNA Mutational Analysis , Exome , Female , Heterozygote , Homozygote , Humans , Male , Malignant Hyperthermia , Genetics , Molecular Sequence Data , Pedigree , Skin Abnormalities , Genetics , Young Adult
17.
Article in Chinese | WPRIM | ID: wpr-335153

ABSTRACT

<p><b>OBJECTIVE</b>To detect potential mutation of immunoglobulin μ -binding protein 2 (IGHMBP2) gene in a two-year-old patient with spinal muscular atrophy with respiratory distress type 1 (SMARD1).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood sample from the patient and her parents, as well as cord blood sample from the fetus. Potential mutations of the coding region of the IGHMBP2 gene was detected with PCR and Sanger sequencing.</p><p><b>RESULTS</b>A heterozygous missense mutation c.1060G>A and a frameshift mutation c.2356delG was detected in the patient. The mutations were respectively inherited from her father and mother. Neither mutation was found in DNA derived from the cord blood sample.</p><p><b>CONCLUSION</b>The missense mutation c.1060G>A and frameshift mutation c.2356delG were probably causative for the disease. Analysis of the IGHMBP2 gene has provided an important clue for the etiology and prenatal diagnosis of SMARD1.</p>


Subject(s)
Adult , Base Sequence , Child, Preschool , DNA Mutational Analysis , DNA-Binding Proteins , Genetics , Female , Humans , Infant , Male , Molecular Sequence Data , Muscular Atrophy, Spinal , Genetics , Pregnancy , Prenatal Diagnosis , Respiratory Distress Syndrome, Newborn , Genetics , Transcription Factors , Genetics
18.
Article in Chinese | WPRIM | ID: wpr-335152

ABSTRACT

<p><b>OBJECTIVE</b>To identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH).</p><p><b>METHODS</b>PCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples.</p><p><b>RESULTS</b>A splicing site mutation, IVS21+2T>G, was found in the PHEX gene in both patients but not among the 100 healthy controls. RT-PCR confirmed that exon 21 of the PHEX gene was deleted.</p><p><b>CONCLUSION</b>The novel splicing mutation IVS21+2T>G of the PHEX gene probably underlies the XLH in this pedigree. At the mRNA level, the mutation has led to removal of exon 21 and shift of the open reading frame (p.Val691fsx), resulting in premature termination of protein translation.</p>


Subject(s)
Adult , Base Sequence , DNA Mutational Analysis , Exons , Familial Hypophosphatemic Rickets , Genetics , Female , Genetic Diseases, X-Linked , Genetics , Humans , Male , Middle Aged , Molecular Sequence Data , Mutation , PHEX Phosphate Regulating Neutral Endopeptidase , Genetics , Pedigree , RNA Splicing , Young Adult
19.
Article in Chinese | WPRIM | ID: wpr-335150

ABSTRACT

<p><b>OBJECTIVE</b>To detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism.</p><p><b>METHODS</b>Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>A previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation.</p><p><b>CONCLUSION</b>A novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified.</p>


Subject(s)
Adult , Albinism, Ocular , Genetics , Asian Continental Ancestry Group , Genetics , Base Sequence , Eye Proteins , Genetics , Female , Genetic Diseases, X-Linked , Genetics , Humans , Infant , Male , Membrane Glycoproteins , Genetics , Molecular Sequence Data , Mutation
20.
Article in Chinese | WPRIM | ID: wpr-335149

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the clinical and molecular features of a child with carnitine palmitoyltransferase 1A (CPT1A) deficiency.</p><p><b>METHODS</b>Clinical data of the child was collected. Blood acylcarnitine was determined with tandem mass spectrometry. DNA was extracted from the child and his parents. All exons and flanking regions of the CPT1A gene were analyzed by PCR and Sanger sequencing.</p><p><b>RESULTS</b>Analysis showed that the patient carried compound heterozygous mutations c.1787T>C and c.2201T>C of the CPT1A gene, which derived his father and mother, respectively. Both mutations were verified as novel through the retrieval of dbSNP, HGMD and 1000 genome databases. Bioinformatic analysis suggested that the mutations can affect protein function.</p><p><b>CONCLUSION</b>Acyl carnitine analysis has been the main method for the diagnosis of CPT1A deficiency. The c.1787T>C and c.2201T>C mutations of the CPT1A gene probably underlie the disease in this patient. Gene testing can provide important clues for genetic counseling and prenatal diagnosis.</p>


Subject(s)
Base Sequence , Carnitine O-Palmitoyltransferase , Genetics , Exons , Female , Humans , Hypoglycemia , Genetics , Infant , Lipid Metabolism, Inborn Errors , Genetics , Male , Molecular Sequence Data , Point Mutation , Pregnancy
SELECTION OF CITATIONS
SEARCH DETAIL