Background: In recent year, Japanese Encephalitis Virus (JEV) genotype 1 has been detected among isolates from mosquitoes and pig\u2019s blood samples in northern Viet Nam, but there has been no information on the presence of this genotype in the Central, Southern and Highland regions. Objectives: This study aims to detect the Japanese encephalitis genotype 1 in various different geographic regions of Viet Nam. Material and method: Sequence analysis\u2019s of whole E gene of 18 strains isolated from human, mosquitoes and pig\u2019s blood during 2001-2007. Results: 7 strains isolated from pig\u2019s blood and mosquito samples in the Northern, Central, Southern and Highland fell into genotype 1, but 11 others isolated from humans in the Northern and Central regions belonged to genotype 3. Conclusion: This is the first time that JEV genotype 1 was detected in the central, northern, highland Viet Nam and further studies on genotype 1 causing human diseases needs to be carried out.\r\n', u'\r\n', u'
Virus ; Japanese Encephalitis ; genotype 1 ; E gene.

No abstract available.
Diabetes Mellitus, Type 1* ; Genotype* ; Humans ; Korea* ; Thyroid Diseases* ; Thyroid Gland*

PURPOSE: Preecalmpsia is a pregnancy-specific disorder that reflects widespread endothelial dysfunction resulting from increases of adhesion molecule expression. Intercellular adhesion molecule-1 (ICAM-1) is involved in the pathogenetic mechanisms responsible for preeclampsia, and ICAM-1 plasma levels and/or function is genetically influenced. Therefore, we evaluated the distribution of ICAM-1 gene K469E polymorphism in pregnant Korean women with preeclampsia and evaluated the association between this polymorphism and preeclampsia. METHODS: The K469E polymorphism was analyzed in peripheral blood samples from 197 preeclamptic pregnancies and 193 normotensive pregnancies by a SNapShot kit and an ABI Prism 3100 Genetic analyzer. RESULTS: Genotypic and allelic frequencies of ICAM-1 gene polymorphism (K469E) did not differ between preeclamptic and normotensive pregnancies. The distributions of the KK, KE, and EE genotypes were 40.6%, 43.7%, and 15.7%, respectively, in preeclamptic pregnancies and 38.9%, 45.1%, and 16.1%, respectively, in normotensive pregnancies. The frequencies of K and E alleles were 0.62 and 0.38, respectively, in preeclamptic pregnancies and 0.61 and 0.39, respectively, in normotensive pregnancies. By multiple logistic regression analysis, there was no increased risk of preeclampsia in subjects with ICAM-1 KE (OR, 1.08; P=0.74) or EE (OR, 1.07; P=0.88) genotypes. CONCLUSION: This study suggests that the ICAM-1 gene K469E polymorphism does not associate with an increased risk of preeclampsia in pregnant Korean women.
Alleles ; Female ; Genotype ; Humans ; Intercellular Adhesion Molecule-1 ; Logistic Models ; Plasma ; Pre-Eclampsia ; Pregnancy

OBJECTIVETo evaluate the association of cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) + 49A/G polymorphism with type 1 diabetes mellitus (T1DM) in children.

METHODSPapers about the association of CTLA4+49A/G polymorphism with T1DM in children were collected by searching PubMed, EBSCO, CBM, CNKI, and Wanfang Data. A meta-analysis was performed to examine differences in the genotypes (AG, GG, and GG+AG) and G allele at position 49 of the CTLA-4 gene between a childhood T1DM group and a control group.

RESULTSA total of 10 papers involving 1084 T1DM children and 1338 healthy children were included. The Meta-analysis was performed to evaluate the association of the genotypes (AG, GG, and GG+AG) and the G allele at position 49 of the CTLA-4 gene with T1DM using a fixed effect model according to the heterogeneity test results of all studies. The pooled OR values (95% CI) were 1.13 (0.97-1.33), 1.42 (1.16-1.75), 1.20 (1.03-1.40), and 1.21 (1.09-1.33), suggesting a significant difference in genotypes (AG, GG, and GG+AG) and the G allele at position 49 of the CTLA-4 gene between the two groups.

CONCLUSIONSCTLA-4 +49A/G polymorphism is associated with T1DM in children.

OBJECTIVETo provide information on the geographical distribution of HIV-1 genotypes and subtypes in the population of China.

METHODSA comprehensive search was carried out in China Hospital Knowledge Database (CHKD), Wanfang (Chinese), CBMDisc and PubMed databases to identify all studies published related to HIV-1 genotypes in China. All studies were grouped according to the sites, period and objects for analyzing the distribution of HIV genotypes.

RESULTSA total of 175 studies were included in this Meta-analysis, which contained 285 records. We found that the predominate genotypes in China were B' subtype, CRF01_AE, CRF07_BC and CRF08_BC, but the subtype distribution of HIV-1 was different in the western and southern parts of the country. CRF01_AE had a significant increase while subtype B' showed a decrease. There were various HIV-1 subtypes among individuals who acquired HIV through sexual contacts and CRF01_AE was most commonly identified in this group of people.

CONCLUSIONThe distribution of HIV-1 genotypes in Chinese people significantly changed, together with high complexity of the HIV-1 epidemics noticed in China.

OBJECTIVEUsing heteroduplex mobility assay (HMA) to subtype human immunodeficiency virus type 1 (HIV-1) for the purpose of understanding HIV-1 subtype epidemic in Fujian province.

METHODSDNA fragments of HIV-1 env gene were amplified from peripheral blood mononuclear cell (PBMC) cocultures of HIV-1 infected individuals by nested polymerase chain reaction (PCR). Heteroduplexs were formed through hybridizing PCR products from the samples and reference plasmid. According to the mobility of heteroduplexs in polyacrylamide gel electrophoresis, HIV-1 subtype from that sample was characterized and further confirmed by nucleotide sequencing analysis.

RESULTSThirteen of 15 (86.67%) samples were successfully subtyped by HMA, except 2 failures. Subtype E and B took up 80% (12/15) and 6.67% (1/15) respectively. Results indicated a high concordance between HMA and nucleotide sequencing analysis and concordance rate was 86.67% (13/15).

CONCLUSIONSSubtype E appeared to be the major epidemic strain of HIV-1 in Fujian. HMA showed the characteristics of fastness, easiness, economic and with high specificity, and can be used in the surviellance for the epidemic strain of HIV-1.

OBJECTIVE: To carry out genetic testing for a Chinese patient with X-linked hypohidrotic ectodermal dysplasia (XLHED) and explore its genotype-phenotype correlation. METHODS: Clinical data of the patient was collected. Peripheral blood samples were taken from the patient, his parents and 100 unrelated healthy controls. Genetic variants were detected by using next-generation sequencing using a skin-disease panel through targeted capture and next generation sequencing. Candidate variant was verified by Sanger sequencing. All literature related to genetic testing of XLHED patients in China was searched in the database, and the genotypes and phenotypes of patients in the literature and the correlation between them were statistically analyzed. RESULTS: A novel splice site variant c.655_689del was detected in the patient but not among his parents and the 100 unrelated healthy controls. So far 61 variants of the EDA gene have been identified among Chinese patients with XLHED, which suggested certain degree of genotype-phenotype correlation. CONCLUSION A novel c.655_689del variant has been identified in the EDA gene, which has expanded the spectrum of EDA gene variant and facilitated delineation of the genotype-phenotype correlation of XLHED.
Child ; China ; Ectodermal Dysplasia 1, Anhidrotic/genetics* ; Ectodysplasins/genetics* ; Genetic Testing ; Genotype ; Humans ; Phenotype

OBJECTIVE: The mode of human immunodeficiency virus (HIV) transmission via injection drug use (IDU) still exists, and the recent shift in IDU-related transmission of HIV infection is largely unknown. The purpose of this study was to analyze the spatiotemporal sources and dynamics of HIV-1 transmission through IDU in Guangxi. METHODS: We performed a molecular epidemiological investigation of infections across Guangxi from 2009 to 2019. Phylogenetic and Bayesian time-geographic analyses of HIV-1 sequences were performed to confirm the characteristics of transmission between IDUs in combination with epidemiological data. RESULTS: Among the 535 subjects, CRF08_BC (57.4%), CRF01_AE (28.4%), and CRF07_BC (10.7%) were the top 3 HIV strains; 72.6% of infections were linked to other provinces in the transmission network; 93.6% of sequence-transmitted strains were locally endemic, with the rest coming from other provinces, predominantly Guangdong and Yunnan; 92.1% of the HIV transmission among people who inject drugs tended to be transmitted between HIV-positive IDUs. CONCLUSION HIV recombinants were high diversity, and circulating local strains were the transmission sources among IDUs in Guangxi. However, there were still cases of IDUs linked to other provinces. Coverage of traditional prevention strategies should be expanded, and inter-provincial collaboration between Guangxi, Yunnan, and Guangdong provinces should be strengthened.
Humans ; HIV-1/genetics* ; HIV Infections ; Drug Users ; Phylogeny ; Bayes Theorem ; China/epidemiology* ; Genotype

OBJECTIVE: To carry out genetic testing for a child with Marfan syndrome (MFS) and explore its genotype-phenotype correlation. METHODS: Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Functional impact of the variant was predicted by using bioinformatic software. RESULTS: The child, a 13-year-old male, has featured Marfanoid habitus, with arm span exceeding his height, tapering fingers and toes, pectus excavatum and scoliosis, but absence of typical cardiovascular system diseases such as aortic dilation, thoracic-abdominal aortic aneurysm, mitral valve prolapse, and lens dislocation. The child has harbored a novel splice site variant c.7383_7413del (p. N2461Kfs*211) of the FBN1 gene, which was not found in his parents and younger brother. The variant was unreported previously. CONCLUSION The novel variant of p. N2461Kfs*211 of the FBN1 gene probably underlay the MFS in this child. Above finding has enriched the genotypic and phenotypic spectrum of MFS.
Male ; Humans ; Marfan Syndrome/genetics* ; Fibrillin-1/genetics* ; Mutation ; Genotype ; Genetic Association Studies

BACKGROUND: Myasthenia gravis (MG) is an autoimmune disorder characterized by an immune response against the nicotinic acetylcholine receptor at the neuromuscular junction. Genetic factors as well as abnormalities of immune regulation can increase the likelihood of MG. Proinflammatory cytokines interleukin (IL)-1alpha, IL-1beta, and their receptor antagonist (IL-1Ra) play major roles in initiating and modulating immune responses. The aim of the present study was to analyze IL-1beta and IL-1 Ra gene polymorphisms between MG patients and healthy controls. METHODS: TaqI restriction fragment polymorphism (RFLP) in exon 5 of IL-1beta and variable numbers of an 86-bp tandem repeat (VNTR) in intron 2 of IL-1Ra were analyzed in 80 patients with MG and 94 matched healthy control individuals. RESULTS: In IL-1beta TaqI RFLP, the genotype of A1/A1 and A1/A2 were 92.5% and 7.5% in patients with MG. In healthy controls, the frequencies of each genotype were 93.6% and 6.4% respectively. IL-1Ra polymorphism, the genotypes of A1/A1, A1/A2 and A1/A3 were 81.3%, 16.3%, and 2.5% in patients with MG. In healthy controls, the frequencies of each genotype were 87.2%, 7.4% and 3.2% respectively. There was no significant difference in the genotype frequencies of IL-1beta TaqI RFLP and IL-1Ra polymorphism between patients and the control group. CONCLUSIONS: These data suggested that the IL-1beta and IL-1Ra gene polymorphisms may not be associated with MG. However, further study is needed to clarify the possible role of IL-1beta and IL-1Ra gene polymorphisms in the susceptibility to myasthenia gravis.
Cytokines ; Exons ; Genotype ; Humans ; Interleukin 1 Receptor Antagonist Protein ; Interleukin-1* ; Interleukins ; Introns ; Myasthenia Gravis* ; Neuromuscular Junction ; Polymorphism, Restriction Fragment Length ; Receptors, Nicotinic ; Tandem Repeat Sequences