Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome.

Background: Bardet-Biedl Syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with a wide spectrum of clinical features. To date, mutations in 21 different genes (BBS1-21) have been identified as causing isolated or complex BBS phenotypes. In this report, we present three Chinese Miao ethnic patients who were diagnosed with BBS on the basis of characteristic clinical features and investigated the exsome of these patients.

Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.

The aim of the present study was to determine the genetic basis of a multi-generational family with late-onset (LO) Fuchs corneal dystrophy (FCD). Five FCD causal genes [solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), zinc finger E-box binding homeobox 1 (ZEB1), lipoxygenase homology domains 1 (LOXHD1), collagen, type VIII, alpha 2 (COL8A2) and transcription factor 4 (TCF4)], previously reported to be implicated in the pathogenesis of FCD, were screened. A total of 27 variants [including 22 known single nucleotide polymorphisms (SNPs) from the Single Nucleotide Polymorphism Database (dbSNP) and 5 variants absent from dbSNP] were detected in this FCD pedigree across the SLC4A11, ZEB1, LOXHD1 and COL8A2 genes as follows: i) 22 known SNPs from dbSNP, including 3 coding (p.

Hepatitis B virus genetic mutations and evolution in liver diseases.

Hepatitis B virus (HBV) belongs to the genus Orthohepadnavirus of the Hepadnaviridae family and is approximately 3.2 kb in length. Owing to a lack of proofreading capacity during reverse transcription and a high replication rate, HBV exhibits as quasispecies.

Evolutionary perspective on hepatitis B virus with an expanded sampling strategy.

To investigate the role hepatitis B e antigen (HBeAg) plays in the evolution of hepatitis B virus (HBV), we sequenced the basic core promoter (BCP) and precore (preC) regions of 348 clones total from ten HBV Chinese patients. Eleven mutations were more frequent in HBeAg-negative patients than in HBeAg-positive patients. Further, the sequencing of dozens of variants was found to be necessary to obtain mutation profiles.

[Current status and implication of research on Bardet-Biedl syndrome].

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease initially reported by Bardet and Biedl in the 1920s. BBS is a pleiotropic and genetically heterogeneous disorder characterized by retinopathy, obesity, polydactyly, renal malformations and functional abnormalities, learning disabilities and hypogenitalism. BBS patients are also prone to diabetes mellitus, hypertension and congenital heart disease.

An outbreak of sheep pox associated with goat poxvirus in Gansu province of China.

Three strains of Capripoxviruses (CaPVs) were isolated from an outbreak of sheep pox in Gansu province of China. They were analyzed by P32 gene-based molecular methods and a species-specific PCR based on the RPO30 gene. Two bands which are specific to goat poxvirus (GTPV) were observed after the PCR products of P32 gene were digested with the endonuclease of Hinf I.

Evolution of Hepatitis B Virus in a Chronic HBV-Infected Patient over 2 Years.

Mutations in full-length HBV isolates obtained from a chronic HBV-infected patient were evaluated at three time points: 1 day, 6 months, and 31 months. While 5 nucleotides variation, and an 18 bp deletion of preS1 have been kept in during at least the first two years, C339T mutation occurring in the hydrophilic region of HBsAg and T770C that caused polymerase V560A substitution were the new point mutations found existing in sequenced clones of the 3rd time point. Internal deletion of coding region obviously appeared in the 3rd time point.

[Establishment of B lymphoblastoid cell lines of Miao pedigree with Bardet-Biedl syndrome].

Objective: To establish immortalized lymphoblastoid cell lines of a Miao core pedigree with Bardet-Biedl syndrome (BBS), in order to provide a long-term source of material for research.

Methods: With Epstein-Barr virus transformation of B cells and addition of cyclosporine A to inhibit the activity of T cells, fresh anticoagulated blood samples with heparin were collected from 12 members of the core pedigree, and were used to establish the immortalized lymphoblastoid cell lines of B lymphocytes.

Results: Twelve immortalized lymphoblastoid cell lines of the core BBS pedigree were obtained successfully.

[Study on the relationship between HBV infection and polymorphism of CIITA G-944C gene among Jinuo, Dai and Aini minority populations in Yunnan province].

Objective: To explore the relationship between HBV infection and the genotypes and allele frequencies of CIITA G-944C gene polymorphism in three minority populations (Jinuo, Dai and Aini population) in Xishuangbanna district, Yunnan province.

Methods: Polymerase chain reaction and sequencing method were used to study the genotypes and allele frequencies distributions of CIITA G-944C gene polymorphism in those three populations. Relationship between the genotypes distribution and HBV infection results were also analyzed.

[Effects of human bone marrow mesenchymal stem cells on cytokines secretion from allogeneic dendritic cell activated cytokine-induced killer cells].

Aim: to study the effect of human bone marrow derived mesenchymal stem cells (hMSCs) on cytokines secretion (IFN-γ, TNF-α, IL-10, IL-6, IL-4 and IL-2) of allogeneic DC-CIK cells (in co-culture of CIK cells with DC), which investigate the mechanism of immunoregulation induced by hMSCs.

Methods: the hMSCs from bone marrow were isolated, expanded and identified by cell morphology, differentiation into neuron-like cells with NSE, fat-like cells with red-oil stain, and expression of CD29, CD44. The DC and CIK cells from peripheral blood were isolated, expanded and identified by CD1α, HLA-DR or CD3(+);CD56(+);.

Identification of an intermediate signature that marks the initial phases of the colorectal adenoma-carcinoma transition.

The colorectal adenoma-carcinoma sequence describes the stepwise progression from normal to dysplastic epithelium and then to carcinoma. Only a small proportion of colorectal adenomas (CRAs) progress to colorectal carcinomas (CRCs). Endoscopic intervention is currently being used on patients with high grade dysplasia CRAs, with diameters of >1 cm, or villous components of >25% who are at higher risk than other CRA sufferers.

Novel hepatitis B virus subgenotype in the southern Yunnan Province of China.

Hepatitis B virus (HBV) infection is highly prevalent in China. To identify the genotypes of HBV in the southern Yunnan Province of China, full-length HBV genomes were extracted from 1 Dai and 4 Hani HBV carriers and linked with the pMD T-18 vector. For each patient, 3-10 clones were sequenced directly and a consensus sequence was created.

[Effect of liver X receptors agonists T0901317 on expression of FAT/CD36 gene mRNA in adult human skeletal muscle cell].

Aim: To investigate the liver X receptors agonists T0901317's effect on expression of FAT/CD36 gene mRNA in adult human skeletal muscle cell.

Methods: Myotubes from humans were exposed to different T0901317 concentrations (0, 0.5, and 1.

Virologic characteristics of hepatitis B virus in patients infected via maternal-fetal transmission.

Aim: To determine whether HBV with the same characteristics causes dissimilar mutations in different hosts.

Methods: Full-length HBV genome was amplified and linked with pMD T18 vector. Positive clones were selected by double-restriction endonuclease digestion (EcoRI and HindIII) and PCR.