OBJECTIVETo perform cytogenetic analysis for children, especially newborns suspected for chromosome abnormalities.

METHODSPeripheral blood or born marrow specimens were respectively cultured in proper media. Karyograms were analyzed following G-banding.

RESULTSOf 154 blood specimens, numerical chromosomal abnormalities were identified in 20 patients, which included 19 with trisomy 21. Structural aberrations were identified in 13 patients, among which chromosome 9 aberrations were seen in 6 cases. These included 3 inversions, 1 deletion, 1 insertion and 1 duplication. All aberrations were located in pericentromere region of chromosome 9 with clinical manifestations including congenital heart disease, peculiar facial appearance, paralysis, dysplasia and/or movement disorder. Chromosome polymorphisms were found in 20 patients, most of which had absence of satellites or variation of heterochromatin on chromosome 9. Of 10 bone marrow specimens from children suspected for acute leukemia, chromosome abnormalities were identified in 5 patients.

CONCLUSIONCytogenetic analysis is useful for children featuring multiple congenital abnormalities. Chromosome 9 abnormalities and their clinical relevance should attract more attention.

Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Banding ; Chromosome Disorders ; epidemiology ; Chromosomes, Human, Pair 9 ; Humans ; Infant ; Infant, Newborn ; Physical Chromosome Mapping ; Prevalence

Chromosome Mapping ; Enhancer Elements, Genetic ; Erythropoietin ; genetics ; Exercise ; Humans ; Military Personnel ; Physical Endurance ; Polymorphism, Single Nucleotide ; Young Adult

OBJECTIVETo establish a highly sensitive and specific dual-color fluorescence in situ hybridization (D-FISH) method used for chromosomal localization of foreign genes in double transgenic mice.

METHODSTwo strains of double transgenic mice were used in this experiment, one was integrated with the herpes simplex virus thymidine kinase (HSV-tk) and the enhanced green fluorescence protein (eGFP), the other was with the short hairpin RNA interference(RNAi) and beta(654). Splenic cells cultured in vitro were arrested in metaphase by colchicine and hybridized with digoxigenin-labeled and biotinylated DNA probes, then detected by rhodamine-conjugated avidin and FITC-conjugated anti-digoxigenin.

RESULTSDual-color fluorescence signals were detected on the same metaphase in both transgenic mice strains. In HSV-tk/eGFP double transgenic mice, strong green fluorescence for HSV-tk and red for eGFP were observed and localized at 2E5-G3 and 8A2-A4 respectively. In beta(654)/RNAi mice, beta(654) was detected as red fluorescence on chromosome 7D3-E2, and RNAi showed random integration on chromosomes. It was detected as green fluorescence on chromosome 12B1 in one mouse, while on 1E2.3-1F and 3A3 in the other.

CONCLUSIONHighly sensitive and specific D-FISH method was established using the self-prepared DNA probes, and chromosomal localization of the foreign genes was also performed in combination with G-banding in double transgenic mice. This technology will facilitate the researches in transgenic animals and gene therapy models.

Animals ; Cells, Cultured ; Color ; Green Fluorescent Proteins ; genetics ; In Situ Hybridization, Fluorescence ; methods ; Mice ; Mice, Transgenic ; Physical Chromosome Mapping ; methods ; Sensitivity and Specificity ; Simplexvirus ; enzymology ; Thymidine Kinase ; genetics ; Transgenes

The incidence of type 2 diabetes is rising rapidly because of an increase in the incidence of being overweight and obesity. Identification of genetic determinants for complex diseases, such as type 2 diabetes, may provide insight into disease pathogenesis. The aim of the study was to investigate the shared genetic factors that predispose individuals to being overweight and developing type 2 diabetes. We conducted genome-wide linkage analyses for type 2 diabetes in 386 affected individuals (269 sibpairs) from 171 Korean families and association analyses with single-nucleotide polymorphisms of candidate genes within linkage regions to identify genetic variants that predispose individuals to being overweight and developing type 2 diabetes. Through fine-mapping analysis of chromosome 4q34-35, we detected a locus potentially linked (nonparametric linkage 2.81, logarithm of odds 2.27, P=6 x 10-4) to type 2 diabetes in overweight or obese individuals (body mass index, BMI> or =23 kg m-2). Multiple regression analysis with type 2 diabetes-related phenotypes revealed a significant association (false discovery rate (FDR) P=0.006 for rs13144140; FDR P=0.002 for rs6830266) between GPM6A (rs13144140) and BMI and waist-hip ratio, and between NEIL3 (rs6830266) and insulin level from 1314 normal individuals. Our systematic search of genome-wide linkage and association studies, demonstrate that a linkage peak for type 2 diabetes on chromosome 4q34-35 contains two type 2 diabetes-related genes, GPM6A and NEIL3.
Body Mass Index ; Chromosomes, Human, Pair 4/*genetics ; Diabetes Mellitus, Type 2/*complications/*genetics ; Female ; Genetic Linkage ; *Genetic Loci ; *Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged ; Overweight/*complications/*genetics ; Phenotype ; Physical Chromosome Mapping ; Statistics, Nonparametric

Genetic improvement for drought stress tolerance in rice involves the quantitative nature of the trait, which reflects the additive effects of several genetic loci throughout the genome. Yield components and related traits under stressed and well-water conditions were assayed in mapping populations derived from crosses of AzucenaxIR64 and AzucenaxBala. To find the candidate rice genes underlying Quantitative Trait Loci (QTL) in these populations, we conducted in silico analysis of a candidate region flanked by the genetic markers RM212 and RM319 on chromosome 1, proximal to the semi-dwarf (sd1) locus. A total of 175 annotated genes were identified from this region. These included 48 genes annotated by functional homology to known genes, 23 pseudogenes, 24 ab initio predicted genes supported by an alignment match to an EST (Expressed sequence tag) of unknown function, and 80 hypothetical genes predicted solely by ab initio means. Among these, 16 candidate genes could potentially be involved in drought stress response.
Disasters ; Expressed Sequence Tags ; Gene Expression Regulation, Plant ; genetics ; Gene Library ; Genes, Plant ; genetics ; Genome, Plant ; Oryza ; genetics ; Physical Chromosome Mapping ; Plant Diseases ; genetics ; Quantitative Trait Loci ; genetics ; Signal Transduction ; Water ; metabolism

OBJECTIVETo determine the genes in which exist overlapping ORF in Merlin strains of human cytomegalovirus, and to reveal their structure and functional characteristics.

METHODSWe search for overlapping genes of ORF in HCMV Merlin strains' whole genome by Bioinformatics methods, analyzing coding sequence CDS and starting and ending sites of ORF, calculating the length of CDS and ORF, analyzing the molecular weight of encoding protein, overlapping length and coding direction of protein, identifying overlapping sequences and overlapping types, analyzing the expression phase of overlapping genes and the function of proteins.

RESULTSThere were 39 overlapping ORF genes in HCMV Merlin strains, accounting for 23% of total genes. Among these 39 genes, there are 13 IE genes, 9 E genes and 17 L genes, which can be divided into 16 contigs. There are 11 contigs when two genes overlap, with 3 contigs in three genes overlapping, and 2 contigs in four genes overlapping. The functions of overlapping genes are widely.

CONCLUSIONWe found that there are a lot of complex overlapping genes in HCMV Merlin strains, which are basis for further study of the transcription and translation mechanism of overlapping genes.

Computational Biology ; Contig Mapping ; Cytomegalovirus ; genetics ; Genes, Duplicate ; genetics ; Humans ; Open Reading Frames ; genetics

No abstract available.
DNA* ; Plasmids* ; Restriction Mapping* ; Yersinia enterocolitica* ; Yersinia*

BACKGROUND: Methicillin-resistant Staphylococcus aureus is a major etiologic agent of hospital acquired infection. Coagulase negative staphylococci (CNS) species are previously regarded as contaminants. However nowadays CNS were regarded as an important cause of bacteremia. So in this study we wanted to analyze the patterns of plasmids and antimicrobial susceptibility test of Staphylococcus species isolated from clinical specimens. METHOD: Plasmid DNA was extracted and then processed through restriction enzyme digestion for plasmid analysis of S. aureus and antimicrobial susceptibility, which was done by agar dilution method. For S. epidermidis plasmid analysis was done without enzyme digestion. RESULTS: All of MRSA have 1 to 5 plasmids. There exists 6 patterns of S. aureus plasmid without enzyme digestion. With EcoRI and HindIII digestion pattern were more distinct and clear. For S. epidermidis enzyme digestion is not needed. Antimicrobial susceptibility patterns of S. aureus are simple whereas S. epidermidis showed variable patterns. CONCLUSIONS: For the plasmid analysis of S. aureus restriction enzyme digestion is required and for the S. epidermidis, the pattern of plasmids are variable so without restriction enzyme analysis we can obtain several patterns. Plasmid analysis will be used as a good epidemilogical tool for Staphylococcus.
Agar ; Bacteremia ; Coagulase ; Digestion ; DNA ; DNA Restriction Enzymes* ; Methicillin-Resistant Staphylococcus aureus ; Plasmids* ; Restriction Mapping ; Staphylococcus aureus* ; Staphylococcus*

BACKGROUND: In Korean population, antigen frequencies of HNA-1a, HNA-1b, and HNA-2a are determined using a serological and genotyping method. However, no study has been done to assess the gene frequencies of HNA-4a and HNA-5a. It has been reported that the antibody against HNA-4a is associated with alloimmune neutropenia and autoimune neutropenia; however, there is no confirmed clinical report on anti-HNA-5a-related disorders. The aim of this study was to determine HNA-4a and HNA-5a gene frequencies among the Korean population. METHODS: Genotyping of HNA-4a and HNA-5a genes of 110 healthy and unrelated Korean donors was performed using a polymerase chain reaction with sequence-specific primers and an allelespecific restriction enzyme analysis. RESULTS: We found that the gene frequencies of HNA-4a and HNA-5a were 0.99 (107/110) and 0.96 (3/110), respectively, among the Korean population. But only the ones of the latter was significantly higher (P<0.01) than in the one of Caucasians. CONCLUSIONS: The gene frequencies of HNA-4a and HNA-5a were determined. We also identified an individual who was the HNA-5a-negative homozygote for the granulocyte panel that could be used for anti-HNA-5a antibody identification.
Gene Frequency* ; Granulocytes ; Homozygote ; Humans* ; Neutropenia ; Neutrophils* ; Polymerase Chain Reaction ; Restriction Mapping ; Tissue Donors

29 isoniazid (INH) resistant isolated strains and INH sensitive reference strain (H37Rv) of Mycobacterium tuberculosis were analysed by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and NciI restriction mapping for the detection of mutations in katG gene and inhA gene. The katG gene was divided into 3 parts (Akat, Bkat, Ckat; each part is about 800 bp) and amplified, inhA gene was amplified as a whole. Each of the amplified 800 bp DNA was digested into small fragments of less than 400 bp with restriction enzymes for the direct PCR-SSCP analysis. Firstly, 10 strains were analysed. All the 10 isolates showed clearly distinct SSCP patterns in Bkat from that of the reference strain, but only two isolates showed distinct SSCP patterns in Akat, and no isolated strain showed any distinct SSCP patterns in Ckat. 10 isolates also showed distinct SSCP patterns in inhA. NciI restriction mapping of Bkat showed mutation in codon 463 in 7 strains among 10 isolated strains. With these results an early detection strategy for the INH resistant M. tuberculosis was applied to the rest of 19 isolated INH resistant strains. Firstly, isolates were screened by Ncsl mapping in Bkat, and 13 strains showed mutations in codon 463. Secondly, the rest of 6 INH resistant isolates were analysed by PCR-SSCP with restriction enzyme digestion (PCR-SSCP-RE) in Bkat, and all the strains showed distinct SSCP patterns from that of the INH sensitive reference strain. This proved our strategy as effective and economic and time saving method in early detection of INH resistant M. tuberculosis.
Codon ; Diagnosis* ; Digestion ; DNA ; Isoniazid* ; Korea* ; Mycobacterium tuberculosis* ; Mycobacterium* ; Polymorphism, Single-Stranded Conformational ; Restriction Mapping ; Tuberculosis