• Journal of Genetic Medicine
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• v.11 no.1
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• pp.16-21
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• 2014

A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.

• Journal of Internet Computing and Services
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• v.21 no.1
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• pp.95-102
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• 2020

In this paper, we present a healthcare data integration management and sharing platform based on a permissioned blockchain-based system called the Hyperledger fabric. The Hyperledger fabric allows patients to easily access their data, share the data with agencies that need it, and also reward participants. The healthcare data is stored in the blockchain by a de-identification process. Privacy is protected by setting detailed access rights to the stored data. The proposed model provides higher security than other models using a public blockchain. This study confirms that patient data can be stored more securely, by comparing the data stored in the blockchain with that from existing information storage methods.

• Food Science of Animal Resources
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• v.36 no.4
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• pp.499-507
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• 2016

In this study, traditional culture method and 16S rRNA gene analysis were applied to reveal the composition and diversity of lactic acid bacteria (LAB) of fermented cow milk, huruud and urum from Baotou and Bayannur of midwestern Inner Mongolia. Also, the quantitative results of dominant LAB species in three different types of dairy products from Baotou and Bayannur were gained by quantitative polymerase chain reaction (q-PCR) technology. Two hundred and two LAB strains isolated from sixty-six samples were identified and classified into four genera, namely Enterococcus, Lactococcus, Lactobacillus, Leuconostoc, and twenty-one species and subspecies. From these isolates, Lactococcus lactis subsp. lactis (32.18%), Lactobacillus plantarum (12.38%) and Leuconosto mesenteroides (11.39%) were considered as the dominated LAB species under the condition of cultivating in MRS and M17 medium. And the q-PCR results revealed that the number of dominant species varied from samples to samples and from region to region. This study clearly shows the composition and diversity of LAB existing in fermented cow milk, huruud and urum, which could be considered as valuable resources for LAB isolation and further probiotic selection.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.9
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• pp.4095-4101
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• 2015

IDH1/2 mutations which result in alternation in DNA methylation pattern are one of the most common methylation associated mutations in Acute myeloid leukaemia. IDH1/2 mutations frequently associated with higher platelet level, normal cytogentics and NPM1 mutations. Here we analyzed IDH1/2 mutations in 200 newly diagnosed unselected Indian adult AML patients and investigated their correlation with clinical, cytogenetic parameters along with cooperating NPM1 mutation. We detected 5.5% and 4% mutations in IDH1/2 genes, respectively. Except IDH2 c.515_516GG>AA mutation, all the other identified mutations were reported mutations. Similar to reported c.515G>A mutation, the novel c.515_516GG>AA mutation replaces $172^{nd}$ arginine to lysine in the active site of the enzyme. Even though there was a preponderance of IDH1/2 mutations in NK-AML, cytogenetically abnormal patients also harboured IDH1/2 mutations. IDH1 mutations showed significant higher platelet count and NPM1 mutations. IDH2 mutated patients displayed infrequent NPM1 mutations and lower WBC count. All the NPM1 mutations in the IDH1/2 mutated cases showed type A mutation. The present data suggest that IDH1/2 mutations are associated with normal cytogenetics and type A NPM1 mutations in adult Indian AML patients.

• Horticultural Science & Technology
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• v.32 no.4
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• pp.535-543
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• 2014

Backcross breeding is the method most commonly used to introgress new traits into elite lines. Conventional backcross breeding requires at least 4-5 generations to recover the genomic background of the recurrent parent. Marker-assisted backcrossing (MABC) represents a new breeding approach that can substantially reduce breeding time and cost. For successful MABC, highly polymorphic markers with known positions in each chromosome are essential. Single nucleotide polymorphism (SNP) markers have many advantages over other marker systems for MABC due to their high abundance and amenability to genotyping automation. To facilitate MABC in hot pepper (Capsicum annuum), we utilized expressed sequence tags (ESTs) to develop SNP markers in this study. For SNP identification, we used Bukang $F_1$-hybrid pepper ESTs to prepare a reference sequence through de novo assembly. We performed large-scale transcriptome sequencing of eight accessions using the Illumina Genome Analyzer (IGA) IIx platform by Solexa, which generated small sequence fragments of about 90-100 bp. By aligning each contig to the reference sequence, 58,151 SNPs were identified. After filtering for polymorphism, segregation ratio, and lack of proximity to other SNPS or exon/intron boundaries, a total of 1,910 putative SNPs were chosen and positioned to a pepper linkage map. We further selected 412 SNPs evenly distributed on each chromosome and primers were designed for high throughput SNP assays and tested using a genetic diversity panel of 27 Capsicum accessions. The SNP markers clearly distinguished each accession. These results suggest that the SNP marker set developed in this study will be valuable for MABC, genetic mapping, and comparative genome analysis.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.4
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• pp.2285-2289
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• 2016

Background: Epstein-Barr virus (EBV) positive diffuse large B-cell lymphoma (DLBCL) of the elderly is an entity introduced in the latest WHO classification of lymphoid tumors and defined in patients older than 50 years without prior lymphoma or immunodeficiency. However, recently it has also been seen in patients under 50. There is thus debate as to whether these are separate entities. Materials and Methods: In this retrospective study, we analyzed de novo DLBCL admitted to our institute over a period of two years. Clinical data included age, sex, nodal and extranodal presentation. The results of an immunohistochemistry (IHC) panel were also reviewed. IHC findings were mainly used to sub-classify DLBCL as germinal center vs. non germinal center types. IHC for identification of LMP-1 (latent membrane protein) and in situ hybridization for detection of EBV-encoded RNA (EBER) was performed. EBV prevalence, clinical data and IHC findings were compared between patients under and over 50 years of age. Results: Out of 95 DLBCL, 11.6% were EBV positive (7.5% and 14.5% in the young and old groups). We did not find any significant differences in IHC subclasses and clinical data between EBV positive DLBCL (EBV+DLBCL) of young and old groups. Conclusions: EBV+DLBCL are not exclusive to patients older than 50 years. With regard to clinical data as well as IHC subclasses, no differences were evident between EBV+DLBCL of young and old groups. Our suggestion is to eliminate any cut off age for EBV+DLBCL.

• Nutrition Research and Practice
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• v.8 no.1
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• pp.94-102
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• 2014

Diet attrition and failure of long term treatment are very frequent in obese patients. This study aimed to identify pre-treatment variables determining dropout and to customise the characteristics of those most likely to abandon the program before treatment, thus making it possible to modify the therapy to increase compliance. A total of 146 outpatients were consecutively enrolled; 73 patients followed a prescriptive diet while 73 followed a novel brief group Cognitive Behavioural Treatment (CBT) in addition to prescriptive diet. The two interventions lasted for six months. Anthropometric, demographic, psychological parameters and feeding behaviour were assessed, the last two with the Italian instrument VCAO Ansisa; than, a semi-structured interview was performed on motivation to lose weight. To identify the baseline dropout risk factors among these parameters, univariate and multivariate logistic models were used. Comparison of the results in the two different treatments showed a higher attrition rate in CBT group, despite no statistically significant difference between the two treatment arms (P = 0.127). Dropout patients did not differ significantly from those who did not dropout with regards to sex, age, Body Mass Index (BMI), history of cycling, education, work and marriage. Regardless of weight loss, the most important factor that determines the dropout appears to be a high level of stress revealed by General Health Questionnaire-28 items (GHQ-28) score within VCAO test. The identification of hindering factors during the assessment is fundamental to reduce the dropout risk. For subjects at risk, it would be useful to dedicate a stress management program before beginning a dietary restriction.

• Journal of Plant Biotechnology
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• v.43 no.3
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• pp.302-310
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• 2016

A study aimed at identifying putative drought responsive genes that confer tolerance to water stress deficit in tea plants was conducted in a 'rain-out shelter' using potted plants. Eighteen months old drought tolerant and susceptible tea cultivars were each separately exposed to water stress or control conditions of 18 or 34% soil moisture content, respectively, for three months. After the treatment period, leaves were harvested from each treatment for isolation of RNA and cDNA synthesis. The cDNA libraries were sequenced on Roche 454 high-throughput pyrosequencing platform to produce 232,853 reads. After quality control, the reads were assembled into 460 long transcripts (contigs). The annotated contigs showed similarity with proteins in the Arabidopsis thaliana proteome. Heat shock proteins (HSP70), superoxide dismutase (SOD), catalase (cat), peroxidase (PoX), calmodulinelike protein (Cam7) and galactinol synthase (Gols4) droughtrelated genes were shown to be regulated differently in tea plants exposed to water stress. HSP70 and SOD were highly expressed in the drought tolerant cultivar relative to the susceptible cultivar under drought conditions. The genes and pathways identified suggest efficient regulation leading to active adaptation as a basal defense response against water stress deficit by tea. The knowledge generated can be further utilized to better understand molecular mechanisms underlying stress tolerance in tea.

• The Plant Pathology Journal
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• v.27 no.2
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• pp.148-155
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• 2011

Our previous sequence and phylogenetic analyses of the Korean Rice stripe virus (RSV) suggested possible genetic reassortment of RNA segments, but whether this RNA variation contributed to the recent RSV outbreaks in Korea is yet unclear. To further clarify these RSV-RNA segment variations, we developed a reverse transcription-polymerase reaction/restriction enzyme (RT-PCR/RE) analysis-based method. We identified five REs, including DraI, EcoR1, NdeI/AseI, and SpeI, that could differentiate RSV RNA 1-4 subtypes, respectively. Our RT-PCR/RE results provided a clear pattern of RNA reassortment, i.e., different groups of isolates having their RNA segments derived from two to three different RSV ancestors, such as from Eastern and Southwestern Chinese or Japanese M and T isolates. We also found that the migratory small brown planthopper from Eastern China caught by aerial net traps that possesses RSV-RNA3 genotypes corresponds mainly to Eastern China, with a few for Southwestern China based on RT-PCR/RE, sequence and phylogenetic analyses, indicating that RSV populations in Eastern China may also have strong RNA variation. The development of an RE analysisbased method proved a useful epidemiological tool for rapid genotyping and identification of mixed infections by RSV strain and by different subtype.

• Proceedings of the Korean Society for Food Science of Animal Resources Conference
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• 2006.05a
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• pp.122-127
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• 2006

The innermost structures of synovium consist of one to three layers of cells generally identified as synovial lining cells(SLC). The present studies were initiated to determine the protein expression patterns of fibroblast-like synovial(FLS) cells derived from the synovia of rheumatoid arthritis. Post-traumatic arthritis(PTA) is one of the most common causes of secondary osteoarthritis, and usually affects younger people. The proteins were separated by two-dimensional polyacrylamide gel electrophoresis and RNA expression investigated by RT-PCR Proteome analyses led to the identification of more than 1,500 protein spots and of 11 differently expressed protein spots among them. Six proteins were down-regulated, and five proteins were up-regulated in ACL-transected synovial tissue. Among these, spots 3 and 8 were identified as cofilin-1 and smooth muscle protein $22-\alpha$, respectively, Therefore, the proteome analysis of synovial tissue is a useful approach to investigate a joint after an injury and can be used to understand the pathogenesis of PTA.