OBJECTIVETo study the epidemic status of human immunodeficiency virus type 1 (HIV-1) subtypes and sequence variations in Henan province and to explore their epidemic characteristics and transmission sources and routes.

METHODSHIV-1 env gene was amplified by nested PRC from uncultured peripheral blood mononuclear cells (PBMCs) obtained from 1157 HIV-1 carriers confirmed in Henan from 2005 to 2006. The C2-V3 region (about 350450 bp) of HIV-1 env was sequenced.

RESULTSOf 1157 samples, there were 4 HIV-1 strains including subtype B', C and recombinant subtype BC and AE, accounting for 96.456% (1116/1157), 0.346% (4/1157), 2.593% (30/1157) and 0.605% (7/1157), respectively. In comparison with the sequences of the international strains of RL42, C.95in21068, 07BC.CN.97.C54A and 01AE.TH.90.CM240, the genetic divergence was (8.971 +/- 3.182)%, (5.109 +/- 0.112)%, (3.568 +/- 0.254)% and (4.775 +/- 0.128)%, respectively. The phylogenetic tree analysis showed that 1116 Henan B' strain was closely related to those of Thailand B' and was far different from other international subtypes. The major transmit route in subtype B' strain was mainly found among former blood donators, while sexual transmission was the major route for BC spreading. For AE, the major transmission was sex and blood transfusion, and sex was defined as the major route for C.

CONCLUSIONThere are four HIV-1 strains including subtype B', C and recombinant subtype BC and AE identified in Henan province currently, and the dominant subtype B' is closely related to HIV-1 strains of Thailand B'. While, for non-B' subtype, there exists the aggregating phenomenon in some local areas. Therefore, it is necessary to attach importance and to strengthen the HIV test and surveillance on migrant populations.

Adolescent ; Adult ; Base Sequence ; China ; DNA, Viral ; Female ; HIV-1 ; classification ; genetics ; isolation & purification ; Humans ; Male ; Middle Aged ; Polymerase Chain Reaction ; Protein Isoforms ; Sequence Analysis, Protein ; Viral Proteins

CD99 is characteristically expressed in Ewing's sarcoma/primitive neuroectodermal tumor. Recently its immunoreactivity has also been reported in other tumors. However, the significance of CD99 isoforms expressed in these tumors has not been elucidated. In this study, we evaluated the expression of CD99 isoforms and its relationship with histopathologic parameters in gastric adenocarcinomas. Paraffin sections of 46 gastric adenocarcinomas were stained with an anti-CD99 monoclonal antibody, YG32. Twelve (26.1%) cases of 46 gastric adenocarcinomas showed immunoreactivity to YG32. The CD99 expression was also seen both in non-neoplastic foveolar epithelial cells and infiltrating lymphocytes. In addition, Western blot and RT-PCR analyses revealed that the type I is the predominant isoform of CD99 in non-neoplastic and neoplastic gastric tissues. The CD99 expression was usually seen in the intestinal type adenocarcinoma, while rarely in the diffuse type. The CD99 immunoreactivity decreased in MMP-2-overexpressing adenocarcinomas (p=0.028). Our results suggest that the type I is the major isoform of CD99 expressed in non-neoplastic gastric mucosa and gastric adenocarcinomas and its downregulation in gastric adenocarcinoma may be associated with cellular dedifferentiation and/or MMP-2 overexpression.
Adenocarcinoma/*immunology/pathology ; Adult ; Aged ; Antigens, CD/*analysis/genetics ; Cell Adhesion Molecules/*analysis/genetics ; Female ; Gastric Mucosa/cytology/immunology ; Humans ; Male ; Matrix Metalloproteinases/metabolism ; Middle Aged ; Protein Isoforms/analysis/genetics ; RNA, Messenger/genetics/metabolism ; Stomach Neoplasms/*immunology/pathology

To explore the hematopoiesis inhibition mechanisms of interferon-gamma (IFN-gamma), the effects of IFN-gamma on the expression of the cyclin D in the umbilical cord blood hematopoietic stem/progenitor cells were observed. In the experiments the CD34(+) cells were isolated from the cord blood with MIDI-MACS system; semi-solid methylcellulose culture technique was used to measure the formation of CFU-GM; the expression levels of cyclin D isoforms were assayed by semi-quantitative RT-PCR, after the hematopoietic stem/progenitor cells were incubated with IFN-gamma. The results indicated that IFN-gamma could inhibit the formation of CFU-GM and down-regulate the expression of cyclin D2 and cyclin D3 at the mRNA level. It is concluded that the IFN-gamma could inhibit the proliferation of hematopoietic stem cells and down-regulate the expression of cyclin D, that may be one mechanism underlying the hematopoietic inhibition of IFN-gamma.
Cyclin D ; Cyclins ; genetics ; Fetal Blood ; cytology ; G1 Phase ; Hematopoietic Stem Cells ; drug effects ; metabolism ; Humans ; Interferon-gamma ; pharmacology ; Protein Isoforms ; RNA, Messenger ; analysis

OBJECTIVETo identify the genetic defect for the autosomal dominant coralliform cataract affecting a four-generation Chinese family.

METHODSGenomic DNA from the family members was typed for whole genomic linkage analysis. Two-point LOD scores were calculated using the LINKAGE program package (version 5.1). Mutation analysis of candidate genes was performed by direct sequencing.

RESULTSThirteen of the 38 individuals had congenital cataracts. The maximum two point LOD score, 3.5 at theta=0.1 was obtained for the marker D2S325. Mutation analysis of the gamma-crystallin gene cluster identified a C --> A mutation in exon 2 of gamma-D crystallin gene (CRYGD) associated with cataracts in this family. This mutation resulted in a substitution of threonine for proline at amino acid 23 (P23T) of the protein.

CONCLUSIONThe results suggest that the coralliform cataract phenotype is due to a mutated gamma-D gene, and the sequence change is identical with that recently reported to be related with lamellar cataract, a distinct clinical entity, thus providing evidence that the same genetic defect may be associated with different opacity location. The pathogenesis needs further investigation.

Base Sequence ; Cataract ; diagnosis ; genetics ; DNA ; chemistry ; genetics ; DNA Mutational Analysis ; Family Health ; Female ; Genes, Dominant ; genetics ; Genetic Predisposition to Disease ; genetics ; Genetic Testing ; Humans ; Lod Score ; Male ; Mutation ; Pedigree ; Phenotype ; Protein Isoforms ; genetics ; gamma-Crystallins ; genetics

No abstract available.
Alternative Splicing ; Biopsy ; Carney Complex/diagnosis/enzymology/*genetics/therapy ; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/*genetics ; DNA Mutational Analysis ; Genetic Predisposition to Disease ; Humans ; Magnetic Resonance Imaging ; Male ; *Mutation ; Pedigree ; Phenotype ; Protein Isoforms ; Tomography, X-Ray Computed ; Young Adult

No abstract available.
Aged, 80 and over ; Base Sequence ; Bone Marrow/pathology ; DNA/chemistry/metabolism ; Female ; Fusion Proteins, bcr-abl/*genetics ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis/*genetics ; Multiplex Polymerase Chain Reaction ; Protein Isoforms/genetics ; Sequence Analysis, DNA

In this study, we analyzed the physical interactions of the dominant negative isoform of MoYpt7. Our results show that MoYpt7 interacts with MoGdi1. The dominant negative isoform of MoYpt7 (dominant negative isoform, N125I) is essential for colony morphology, conidiation, and pathogenicity in the rice blast fungus. These results further demonstrate the biological functions of MoYpt7 in Magnaporthe oryzae.
DNA Mutational Analysis ; Fungal Proteins/metabolism* ; Gene Expression Regulation, Fungal ; Genes, Fungal ; Green Fluorescent Proteins/metabolism* ; Magnaporthe/genetics* ; Microscopy, Fluorescence ; Mutation ; Oryza/microbiology* ; Phenotype ; Plant Diseases/microbiology* ; Protein Isoforms

A 42-year-old female diagnosed with tuberous sclerosis was found to have multiple polyps in the fundus of stomach. On histologic examination, the lesions were hamartomatous polyps. In tuberous sclerosis, many lesions occur in multiple organs and there are several reports about the frequent association of hamartomatous polyps of the colon. However, gastric manifestation of tuberous sclerosis has not been established probably due to its asymptomatic nature. This is the first report of multiple gastric hamartomatous polyposis in patient with tuberous sclerosis.
Abdominal Pain/etiology ; Actins/analysis ; Adult ; Case Report ; Cecal Neoplasms/pathology ; Encephalomalacia/etiology ; Female ; Gastric Fundus/pathology ; Gastroscopy ; Hamartoma/genetics+ACo- ; Human ; Hyperplasia ; Nasopharyngeal Neoplasms/pathology ; Neoplasm Proteins/analysis ; Polyps/genetics+ACo- ; Protein Isoforms/analysis ; Stomach Neoplasms/genetics+ACo- ; Tuberous Sclerosis/pathology+ACo- ; Tumor Markers, Biological/analysis

A 42-year-old female diagnosed with tuberous sclerosis was found to have multiple polyps in the fundus of stomach. On histologic examination, the lesions were hamartomatous polyps. In tuberous sclerosis, many lesions occur in multiple organs and there are several reports about the frequent association of hamartomatous polyps of the colon. However, gastric manifestation of tuberous sclerosis has not been established probably due to its asymptomatic nature. This is the first report of multiple gastric hamartomatous polyposis in patient with tuberous sclerosis.
Abdominal Pain/etiology ; Actins/analysis ; Adult ; Case Report ; Cecal Neoplasms/pathology ; Encephalomalacia/etiology ; Female ; Gastric Fundus/pathology ; Gastroscopy ; Hamartoma/genetics+ACo- ; Human ; Hyperplasia ; Nasopharyngeal Neoplasms/pathology ; Neoplasm Proteins/analysis ; Polyps/genetics+ACo- ; Protein Isoforms/analysis ; Stomach Neoplasms/genetics+ACo- ; Tuberous Sclerosis/pathology+ACo- ; Tumor Markers, Biological/analysis

We have previously isolated a novel protein "B/K" that contains two C2-like domains. Here, we report the isolatioin and mRNA distribution of a human B/K isoform, and protein kinase A (PKA)-dependent phosphorylation of the B/K protein. The 1.5 kb human B/K cDNA clone exhibits 89% and 97% identities with rat B/K in the sequences of nucleotide and amino acid, respectively. Human B/K isoform encodes a 474 amino acid protein and shows structural features similar to the rat counterpart including two C2 domains, three consensus sequences for PKA, absence of a transmembrane region, and conservation of the N-terminal cysteine cluster. On Northern and dot blot analyses, a 3.0 kb B/K transcript was abundantly present in human brain, kidney, and prostate. Among the brain regions, strong signals were observed in the frontal and temporal lobes, the hippocampus, the hypothalamus, the amygdala, the substantia nigra, and the pituitary. Recombinant B/K proteins containing three consensus sites for PKA was very efficiently phosphorylated in vitro by PKA catalytic subunit. B/K protein which was overexpressed in LLC-PK1 cells was also strongly phosphorylated in vivo by vasopressin analog DDAVP, and PKA-specific inhibitor H89 as well as type 2 vasopressin receptor antagonist specifically suppressed DDAVP-induced B/K phosphorylation. These results suggest that B/K proteins play a role as potential substrates for PKA in the area where they are expressed.
Sequence Homology, Amino Acid ; Sequence Analysis, DNA ; Rats ; Protein Isoforms/genetics ; Phosphorylation ; Phosphoproteins/genetics/*metabolism ; Molecular Sequence Data ; Mice ; Male ; Humans ; Gene Expression Profiling ; Female ; DNA, Complementary/chemistry/genetics ; Cyclic AMP-Dependent Protein Kinases/*physiology ; Cloning, Molecular ; Cell Line ; Base Sequence ; Animals ; Amino Acid Sequence ; Adult