Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 3.332
Filtrar
1.
Braz. j. microbiol ; 49(1): 13-15, Jan.-Mar. 2018. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-889194

RESUMO

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.


Assuntos
Streptomyces/isolamento & purificação , Genoma Bacteriano , Sedimentos Geológicos/microbiologia , Filogenia , Streptomyces/classificação , Streptomyces/genética , Proteínas de Bactérias/genética , Proteínas de Bactérias/metabolismo , Composição de Bases , DNA Bacteriano/genética , Dados de Sequência Molecular , Sequência de Bases , Malásia
2.
Braz. j. microbiol ; 49(1): 5-6, Jan.-Mar. 2018.
Artigo em Inglês | LILACS (Américas) | ID: biblio-889197

RESUMO

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.


Assuntos
Esgotos/microbiologia , Genoma Bacteriano , Chryseobacterium/genética , Penicilinas/farmacologia , Filogenia , Esgotos/química , Composição de Bases , DNA Bacteriano/genética , Dados de Sequência Molecular , Sequência de Bases , Testes de Sensibilidade Microbiana , Carbapenêmicos/farmacologia , Chryseobacterium/isolamento & purificação , Chryseobacterium/classificação , Chryseobacterium/efeitos dos fármacos , Antibacterianos/farmacologia
3.
Braz. j. microbiol ; 49(1): 10-12, Jan.-Mar. 2018. tab
Artigo em Inglês | LILACS (Américas) | ID: biblio-889198

RESUMO

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.


Assuntos
Água do Mar/microbiologia , Genoma Bacteriano , Flavobacteriaceae/genética , Filogenia , Composição de Bases , DNA Bacteriano/genética , Dados de Sequência Molecular , Sequência de Bases , Flavobacteriaceae/isolamento & purificação , Flavobacteriaceae/classificação , Malásia
4.
Braz. j. microbiol ; 49(1): 18-19, Jan.-Mar. 2018.
Artigo em Inglês | LILACS (Américas) | ID: biblio-889201

RESUMO

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.


Assuntos
Animais , Bovinos , Bacillus anthracis/isolamento & purificação , Bacillus anthracis/genética , Vacinas Bacterianas/genética , Doenças dos Bovinos/microbiologia , Genoma Bacteriano , Filogenia , Plasmídeos/genética , Bacillus anthracis/classificação , Composição de Bases , DNA Bacteriano/genética , Dados de Sequência Molecular , Vacinas Bacterianas/isolamento & purificação , Sequência de Bases
5.
Braz. j. microbiol ; 49(1): 16-17, Jan.-Mar. 2018.
Artigo em Inglês | LILACS (Américas) | ID: biblio-889216

RESUMO

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.


Assuntos
Humanos , Genoma Bacteriano , Enterobacteriaceae/isolamento & purificação , Enterobacteriaceae/genética , Infecções por Enterobacteriaceae/microbiologia , Filogenia , Plasmídeos/genética , Composição de Bases , DNA Bacteriano/genética , Dados de Sequência Molecular , Sequência de Bases , Enterobacteriaceae/classificação
6.
Braz. j. microbiol ; 49(1): 20-28, Jan.-Mar. 2018. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-889213

RESUMO

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.


Assuntos
Bactérias/isolamento & purificação , Chryseobacterium/genética , Oryza/crescimento & desenvolvimento , Microbiologia do Solo , Antibiose , Fenômenos Fisiológicos Bacterianos , Bactérias/classificação , Bactérias/genética , Composição de Bases , Sequência de Bases , Chryseobacterium/classificação , Chryseobacterium/efeitos dos fármacos , Chryseobacterium/isolamento & purificação , DNA Bacteriano/genética , Dados de Sequência Molecular , Oryza/microbiologia , Filogenia
7.
Mem. Inst. Oswaldo Cruz ; 113(2): 80-86, Feb. 2018. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-894891

RESUMO

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.


Assuntos
Filogenia , Microbiologia da Água , Leptospira interrogans/isolamento & purificação , Leptospira interrogans/genética , Virulência , Dados de Sequência Molecular , Genoma Bacteriano
8.
Mem. Inst. Oswaldo Cruz ; 112(7): 514-516, July 2017. graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-841814

RESUMO

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.


Assuntos
Humanos , Plasmídeos/genética , DNA Bacteriano/genética , Dados de Sequência Molecular , Sistemas de Secreção Tipo VII/genética , Micobactérias não Tuberculosas/genética , Análise de Sequência
9.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335131

RESUMO

<p><b>OBJECTIVE</b>To carry out mutation analysis and prenatal diagnosis for 12 families affected with hearing loss and enlarged vestibular aqueduct from southern Zhejiang province.</p><p><b>METHODS</b>Clinical data and peripheral venous blood samples of 38 members from the 12 families were obtained. Mutations of 4 genes, namely SLC26A4, GJB2, c.538C to T and c.547G to A of GJB3, m.1555A to G and m.1494C to T of 12S rRNA, were detected by PCR and Sanger sequencing. Maternal contamination was excluded by application of STR detection during prenatal diagnosis.</p><p><b>RESULTS</b>Among the probands from the 12 families, 11 were found to be compound heterozygotes or homozygotes and 25 were heterozygotes. All of the families were detected with IVS7-2A to G mutations, and 4 had a second heterozygous mutation (c.2168A to G of the SLC26A4 gene). Four rare pathogenic mutations, namely IVS5-1G to A, c.946G to T, c.1607A to G and c.2167C to G, were detected in another four families. In addition, the partner of proband from pedigree 3 was identified with compound heterozygous mutations of c.235delC and c.299-300delAT, and proband of pedigree 5 has carried a mutation of c.109G to A in GJB2. For SLC26A4 gene, prenatal diagnostic testing has revealed heterozygous mutations in 6 fetuses and compound heterozygous mutations in 2 fetuses.</p><p><b>CONCLUSION</b>IVS7-2A to G and c.2168A to G of the SLC26A4 gene were the most common mutations in southern Zhejiang. Such mutations can be found in most families affected with hearing loss and enlarged vestibular aqueduct, which may facilitate genetic counseling and prenatal diagnosis for such families.</p>


Assuntos
Adolescente , Adulto , Sequência de Bases , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Doenças Fetais , Diagnóstico , Genética , Perda Auditiva , Diagnóstico , Embriologia , Genética , Perda Auditiva Neurossensorial , Diagnóstico , Embriologia , Genética , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Gravidez , Diagnóstico Pré-Natal , Aqueduto Vestibular , Anormalidades Congênitas , Embriologia , Adulto Jovem
10.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335130

RESUMO

<p><b>OBJECTIVE</b>To screen for FOXL2 gene mutations in 6 patients with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlation.</p><p><b>METHODS</b>Peripheral venous blood samples were collected from the patients for the extraction of genomic DNA. PCR and Sanger sequencing were employed to analyze the coding region and flanking sequences of the FOXL2 gene. Pathogenicity of the identified mutations was verified through literature review and bioinformatic analysis.</p><p><b>RESULTS</b>A heterozygous c.672_701dup30 mutation was found in the probands from the two familial cases, while three heterozygous mutations (two were novel), namely c.462_468del (p.Pro156Argfs*113), c.251T to A (p.Ile84Asn) and c.988_989insG (p.Ala330Glyfs*204) were detected in the three sporadic cases. Literature review and bioinformatic analysis indicated that all these mutations are pathogenic.</p><p><b>CONCLUSION</b>Identification of causative mutations in the BPES patients has provided a basis for genetic counseling and reproductive guidance. The novel mutations have enriched the mutation spectrum of the FOXL2 gene.</p>


Assuntos
Adulto , Grupo com Ancestrais do Continente Asiático , Genética , Sequência de Bases , Blefarofimose , Diagnóstico , Genética , China , Feminino , Proteína Forkhead Box L2 , Fatores de Transcrição Forkhead , Genética , Estudos de Associação Genética , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Anormalidades da Pele , Diagnóstico , Genética , Anormalidades Urogenitais , Diagnóstico , Genética , Adulto Jovem
11.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335129

RESUMO

<p><b>OBJECTIVE</b>To analyze mutations of IDUA gene in two pedigrees affected with mucopolysaccharidosis type I and provide prenatal diagnosis for them.</p><p><b>METHODS</b>The 14 exons of the IDUA gene were subjected to PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>For pedigree 1, the proband was found to harbor compound heterozygous mutations c.46-57delTCGCTCCTGGCC (p.Ser16_Ala19del) of exon 1 and c.1147delC (p.Arg383Alafs*57) of exon 8 of the IDUA gene, which were inherited from his father and mother, respectively. The latter was unreported previously. Prenatal diagnosis suggested that the fetus has carried a heterozygous c.46-57delTCGCTCCTGGCC mutation. For family 2, the proband was also found to carry compound mutations of the IDUA gene, namely c.721T to C (p.Cys241Arg) of exon 6 and c.1491delG (p.Thr497fs27) of exon 8, which were inherited from her mother and father, respectively. Neither mutation was reported previously. Prenatal diagnosis suggested that the fetus has carried a heterozygous c.721T to C mutation.</p><p><b>CONCLUSION</b>Mutations of the IDUA gene probably underlie the MPS-I in both pedigrees. Above results have enriched the spectrum of IDUA gene mutations and facilitated prenatal diagnosis for both families.</p>


Assuntos
Adulto , Grupo com Ancestrais do Continente Asiático , Genética , Sequência de Bases , Criança , Pré-Escolar , China , Análise Mutacional de DNA , Feminino , Doenças Fetais , Diagnóstico , Genética , Heterozigoto , Humanos , Iduronidase , Genética , Masculino , Dados de Sequência Molecular , Mucopolissacaridose I , Diagnóstico , Embriologia , Genética , Linhagem , Gravidez , Diagnóstico Pré-Natal , Deleção de Sequência
12.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335128

RESUMO

<p><b>OBJECTIVE</b>To study genetic mutations and clinical features of a pedigree affected with MYH9-related disorders from Guangxi.</p><p><b>METHODS</b>Blood platelets were counted with a hemocytometer. Blood smear was carried out to detect the inclusion body in peripheral blood neutrophils. DNA and mRNA samples were extracted from blood samples from the members of the pedigree. Fragments of the MYH9 gene were amplified with PCR and directly sequenced.</p><p><b>RESULTS</b>The affected individuals presented with a triad of giant platelets, decreased platelet count and inclusion bodies in the neutrophils with variable expressivity. A heterozygous deletional mutation (c.5803delG) in exon 41 of the MYH9 gene was found in all of the 8 affected individuals, which led to a frame-shift and change of 26 amino acids at the C-end of the tail domain of nonmuscle myosin heavy chain IIA (NMMHC-IIA) (p.Ala1935Profs*12). The same mutation was not found among healthy members of the pedigree.</p><p><b>CONCLUSION</b>The c.5803delG mutation probably underlies the MYH9-related disorders in this pedigree. The mutation has altered the C-end of the tail domain of the NMMHC-IIA protein, resulting in mild clinical symptoms in the affected individuals.</p>


Assuntos
Adulto , Sequência de Bases , China , Feminino , Humanos , Masculino , Proteínas Motores Moleculares , Genética , Dados de Sequência Molecular , Cadeias Pesadas de Miosina , Genética , Linhagem , Deleção de Sequência , Trombocitopenia , Diagnóstico , Genética
13.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335126

RESUMO

<p><b>OBJECTIVE</b>To explore the characteristics of (PAH) gene mutations among patients with phenylketonuria (PKU) from Linyi area of Shandong Province.</p><p><b>METHODS</b>For 51 children affected with PKU and their parents, the 13 exons and their flanking intronic sequences of the PAH gene were directly sequenced with Sanger method.</p><p><b>RESULTS</b>PAH gene mutations were detected in all of the 102 alleles of the patients, which included 31 types of mutations. Common mutations included R243Q (17/102, 16.67%), IVS4-1G to A (9/102, 8.82%), R241C (8/102, 7.84%), R111X (8/102, 7.84%), and V399V (8/102, 7.84%). In addition, two novel mutations, D101N, 345-347del, have been detected. The 31 types of mutations included missense, nonsense, deletion, and splicing mutations, which were mainly located in exons 7 (29, 28.43%), 11 (18, 17.65%), 3 (16, 15.69%) and 12 (13, 12.75%).</p><p><b>CONCLUSION</b>Mutations of the PAH gene in Linyi region mainly distributed in exons 7, 11, and 3, and the most common mutation were R243Q. Two novel mutations, D101N and 345-347del, have been detected.</p>


Assuntos
Sequência de Bases , Criança , Pré-Escolar , China , Éxons , Feminino , Humanos , Lactente , Masculino , Dados de Sequência Molecular , Mutação , Fenilalanina Hidroxilase , Genética , Fenilcetonúrias , Genética
14.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335125

RESUMO

<p><b>OBJECTIVE</b>To determine the molecular etiology for a family affected with autosomal dominant polycystic kidney disease and provide prenatal diagnosis for the family.</p><p><b>METHODS</b>Clinical data of the family was collected. Target region sequencing with monogenetic disorders capture array combined with Sanger sequencing and bioinformatics analysis were performed in turn. SIFT and NCB1 were used to evaluate the conservation of the gene and pathogenicity of the identified mutation.</p><p><b>RESULTS</b>Target region sequencing has identified a novel c.11333C to A (p.T3778N) mutation of the PKD1 gene in the proband and the fetus, which was confirmed by Sanger sequencing in three affected individuals from the family. The same mutation was not detected in healthy members of the pedigree. Bioinformatics analysis suggested that the mutation has caused a likely pathogenic amino acid substitution of Threonine by Aspartic acid, and Clustal analysis indicated that the altered amino acid is highly conserved in mammals.</p><p><b>CONCLUSION</b>A novel mutation of the PKD1 gene has been identified in an affected Chinese family. The mutation is probably responsible for a range of clinical manifestations, for which reliable prenatal diagnosis and genetic counseling may be provided.</p>


Assuntos
Adulto , Sequência de Aminoácidos , Grupo com Ancestrais do Continente Asiático , Genética , Sequência de Bases , China , Análise Mutacional de DNA , Éxons , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação , Linhagem , Rim Policístico Autossômico Dominante , Genética , Canais de Cátion TRPP , Genética , Adulto Jovem
15.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335124

RESUMO

<p><b>OBJECTIVE</b>To analyze the clinical characteristics and causative mutation in an ethnic Han Chinese family affected with punctate palmoplantar keratoderma (PPPK).</p><p><b>METHODS</b>Clinical characteristics and inheritance pattern of the family were analyzed. Two seriously affected individuals from the family were investigated by whole exome sequencing. Three healthy individuals from the family and 120 non-PPPK individuals were evaluated to validate the result.</p><p><b>RESULTS</b>The family was characterized by keratotic papules on the palms and soles, which gradually increased in size and number with age and coalesced with each other, particularly over the pressure part of the palms and soles. The family has featured autosomal dominant inheritance. A heterozygous frameshift variant c.419delC in exons of the CELA1 gene was identified in all affected individuals but not among non-affected members.</p><p><b>CONCLUSION</b>A heterozygous frameshift variant c.419delC in CELA1 gene probably underlies the disease in the family affected with PPPK.</p>


Assuntos
Adulto , Sequência de Bases , Feminino , Mutação da Fase de Leitura , Heterozigoto , Humanos , Ceratodermia Palmar e Plantar , Genética , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação , Elastase Pancreática , Genética , Linhagem , Adulto Jovem
16.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335123

RESUMO

<p><b>OBJECTIVE</b>To analyze the clinicopathologic features and genetic mutation in a patient diagnosed with focal segmental glomerulosclerosis (FSGS).</p><p><b>METHODS</b>Clinicopathologic data of the patient, who was diagnosed with primary FSGS by renal biopsy, was collected. Mutations of FSGS-related genes were screened with next-generation sequencing. Suspected pathogenic mutation was verified with Sanger sequencing.</p><p><b>RESULTS</b>Next-generation sequencing detected a missense mutation (c.2215C to G, p.P739A) in exon 28 of the COL4A5 gene in the patient. The same mutation was also detected in his mother who was asymptomatic. Another missense mutation (c.2215C to T, p.P739S) in the same codon has been related with Alport syndrome.</p><p><b>CONCLUSION</b>The c.2215C to G (p.P739A) mutation may be one of pathogenic mutations underlying FSGS. This has provided further evidence for the phenotypic heterogeneity of COL4A5 gene mutations.</p>


Assuntos
Adulto , Sequência de Bases , Colágeno Tipo IV , Genética , Éxons , Feminino , Glomerulosclerose Segmentar e Focal , Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Dados de Sequência Molecular , Mutação , Adulto Jovem
17.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335122

RESUMO

<p><b>OBJECTIVE</b>To detect potential mutation of the TCIRG1 gene in a boy with infantile malignant osteopetrosis.</p><p><b>METHODS</b>Target sequence capture and next-generation sequencing were applied for the proband and his parents to identify the causative mutation, and Sanger sequencing was used to verify the suspected mutation.</p><p><b>RESULTS</b>The proband manifested at 4 months of age with symptoms including anemia, thrombocytopenia, hepatosplenomegaly, and cephalus quadratus. X-ray revealed generalized increased bone density. A novel compound heterozygous mutation, c.796G to T (p.E266X) and c.1372G to A (p.G458S), were identified in the boy. His father and grandmother also carried the c.796G to T (p.E266X) mutation, and his mother carried the c.1372G to A (p.G458S) mutation. Neither mutation was found in the PubMed and ClinVar databases.</p><p><b>CONCLUSION</b>The novel compound heterozygous mutation c.796G to T (p.E266X) and c.1372G to A (p.G458S) probably underlies the disease in the proband. Above results may enrich the mutation spectrum of the TCIRG1 gene and provide new evidence for the molecular basis of infantile malignant osteopetrosis.</p>


Assuntos
Adulto , Grupo com Ancestrais do Continente Asiático , Sequência de Bases , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido , Genética , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação , Osteopetrose , Genética , Linhagem , ATPases Vacuolares Próton-Translocadoras , Genética
18.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335121

RESUMO

<p><b>OBJECTIVE</b>To delineate the clinical, biochemical and genetic mutational characteristics of a child with mitochondrial complex III deficiency.</p><p><b>METHODS</b>Clinical information and results of auxiliary examination of the patient were analyzed. Next-generation sequencing of the mitochondrial genome and related nuclear genes was carried out. Suspected mutation was confirmed in both parents with Sanger sequencing. Heterozygous deletion was mapped with chromosomal microarray analysis and confirmed with real-time PCR.</p><p><b>RESULTS</b>The patient presented with vomiting, polypnea, fever, metabolic acidosis, hyperlactatemia, hypoglycemia, dysfunction of coagulation and immune system, in addition with increased lactate dehydrogenase and creatine kinase isoenzyme. Elevation of blood alanine and acylcarnitines as well as urinary ketotic dicarboxylic acid were also noted. The patient also presented development delay, mental retardation and hypotonia. Sequence analysis revealed two mutations in the nuclear gene UQCRB, which included a previously reported frameshift mutation c.306_309delAAAA(p.Arg105Lysfs*22) and a novel large deletion encompassing the entire UQCRB gene.</p><p><b>CONCLUSION</b>The clinical, biochemical and gene mutation characteristics of a child with mitochondrial complex III deficiency caused by mutations of the UQCRB gene have been delineated.</p>


Assuntos
Adulto , Sequência de Bases , Proteínas de Transporte , Genética , Complexo III da Cadeia de Transporte de Elétrons , Genética , Feminino , Humanos , Lactente , Masculino , Doenças Mitocondriais , Genética , Dados de Sequência Molecular , Mutação
19.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335120

RESUMO

<p><b>OBJECTIVE</b>To detect pathogenic mutation of the SLC39A4 gene in a male patient with acrodermatitis enteropathica (AE).</p><p><b>METHODS</b>Peripheral venous blood sample and clinical data from the patient and his parents were collected. One hundred unrelated healthy individuals were recruited as controls. All coding exons and flanking exon-intron sequences of the SLC39A4 gene were analyzed by PCR and direct sequencing.</p><p><b>RESULTS</b>The results revealed that the patient and his mother have both carried a novel frame-shift mutation c.1110InsG (p.Gly370GlyfsX47 to TGA) in exon 6. A novel nonsense mutation c.958C to T (p.Q320X) in exon 5 was also detected in the patient and his father and grandmother. This novel mutation was not detected in the unaffected family members and 100 unrelated healthy controls.</p><p><b>CONCLUSION</b>The novel frame-shift mutation c.1110InsG (p.Gly370GlyfsX47 to TGA) derived from the mother and nonsense mutation c.958C to T (p.Q320X) of the SLC39A4 gene derived from the father may underlie the disease in the patient.</p>


Assuntos
Acrodermatite , Genética , Adolescente , Sequência de Bases , Proteínas de Transporte de Cátions , Genética , Éxons , Homozigoto , Humanos , Masculino , Dados de Sequência Molecular , Mutação , Linhagem , Zinco
20.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-335119

RESUMO

<p><b>OBJECTIVE</b>To analyze mutations of SLC26A4 gene and explore their origins for a patient with enlarge vestibuar aqueduct syndrome.</p><p><b>METHODS</b>Clinical data and peripheral venous blood samples were collected from the patient and her parents. Genome DNA was extracted from the peripheral blood. All of the 21 exons of the SLC26A4 gene were amplified with PCR and subjected to directly sequencing.</p><p><b>RESULTS</b>The patient was found to have carried two mutant alleles of the SLC26A4 gene, namely c.1522A to G and c.1229C to T, which were inherited from her father and mother, respectively.</p><p><b>CONCLUSION</b>SLC26A4 c.1522A to G is likely to be a pathogenic mutation. Above results may facilitate genetic counseling and prenatal diagnosis for this family.</p>


Assuntos
Adulto , Sequência de Aminoácidos , Criança , Éxons , Feminino , Perda Auditiva Neurossensorial , Genética , Humanos , Masculino , Proteínas de Membrana Transportadoras , Genética , Dados de Sequência Molecular , Linhagem , Aqueduto Vestibular , Anormalidades Congênitas
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA