• Asian Pacific Journal of Cancer Prevention
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• v.16 no.15
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• pp.6645-6650
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• 2015

Background: Gastric cancer (GC) is the third most common cancer regarding mortality in the world. The cag pathogenicity island (PAI) of Helicobacter pylori which contains genes associated with a more aggressive phenotype may involve in the pathogenesis of gastrointestinal disease. We here aimed to examine the associations of cagH, cagL, orf17, and cagG genotypes of H. pylori cag PAI with severe gastrointestinal disease. Materials and Methods: A total of 242 H. pylori strains were genotyped. Histopathological examination and classification of subjects were performed. Results: The frequencies of the cagH, cagL, cagG, and orf17 genotypes were 40/54 (74.1%), 53/54 (98.1%), 38/54 (70.4%), and 43/54 (79.6%), respectively, in patients with peptidic ulceration (PU),while in the control group, the frequencies were 87/147 (59.6%) for cagH, 121/146 (82.9%) for cagL, 109/146 (74.7%) for cagG, and 89/146 (61.0%) for orf17. The results of simple logistic regression analysis showed that the cagL and orf17 genotypes were significantly associated with an increased risk of PU not GC; the ORs (95% CI) were 10.950 (1.446-82.935), and 2.504 (1.193-5.253), respectively. No significant association was found between the cagH and cagG genotypes and the risk of both the PU and the GC in Iran (P>0.05). Finally, multiple logistic regression analysis showed that the cagL genotype was independently and significantly associated with the age-and sex-adjusted risk for PU; the OR (95% CI) was 9.557 (1.219-17.185). Conclusions: We conclude that the orf17 and especially cagL genotypes of H. pylori cag PAI could be factors for risk prediction of PU, but not GC in Iran.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.5
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• pp.2009-2011
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• 2015

Objective: Glutathione S-transferase M 1 (GSTM1) is implicated as a risk factor for prostate cancer. However, this issue is not clear in Chinese population. This systemic analysis was conducted to evaluate the effect of GSTM1 null genotypes on prostate cancer risk in Chinese. Methods: Published studies investigating the associations between GSTM1 null genotypes and the risk of prostate cancer in China were identified by using a predefined search strategy. Main statisticals were pooled and estimated according to the primarily reported data. Results: The prevalence of the GSTM1 null genotype was higher in prostate cancer patients than in controls, with significance. Conclusion: The GSTM1 null genotypes is associated with increased risk of prostate cancer in Chinese.

• Neonatal Medicine
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• v.18 no.2
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• pp.374-378
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• 2011

Noonan syndrome is an autosomal dominant disorder characterized by typical facial features, congenital heart disease, and short stature. Diagnosis is difficult only with clinical symptoms and it is recently confirmed with gene study. The genotype-phenotype correlations have been reported. We report a newborn with KRAS gene mutation. This is the second report of case with KRAS gene mutation in Korea. So we hope this case will be a help to diagnosis and treatment of Noonan syndrome from birth.

• Journal of Microbiology
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• v.40 no.4
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• pp.254-259
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• 2002

The Phytophthora infestans requires two mating types for sexual reproduction. Amplified fragment length polymorphism (AFLP) was used to specifically detect different mating types of P. infestans. The AFLP primers E+AA (5'-GACTGCGTACCAATTCAA-3') and M+CAA (5'-GATGAGTCCTGAG-TAAC AA-3') detected a fragment that is specific in the A2 mating type of P. infestans. This fragment was cloned and sequenced. Based on the sequence data, PHYB-1 and PHYB-2 primer were designed to detect the A2 mating type of P. infestans. A single 347 bp segment was observed in the A2 mating type of P. infestans, but not in the A1 mating type of P. infestans or other Phytophthora spp. Identification of mating type was performed with phenotype (sexual reproduction) and genotype (CAPs marker) methods. Two factors, the annealing temperature and template DNA quantity, were investigated to determine the optimal conditions. Using mating type-specific primers, a unique band was obtained within annealing temperatures of 57$^{\circ}C$-62$^{\circ}C$ and DNA levels of 10pg-100 ng (data not shown).

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.6
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• pp.2107-2117
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• 2015

Thyroid cancer is the most common endocrine neoplasia. The medullary thyroid carcinoma (MTC) is one of the most aggressive forms of thyroid malignancy,accounting for up to 10% of all types of this disease. The mode of inheritance of MTC is autosomal dominantly and gain of function mutations in the RET proto-oncogene are well known to contribute to its development. MTC occurs as hereditary (25%) and sporadic (75%) forms. Hereditary MTC has syndromic (multiple endocrine neoplasia type 2A, B; MEN2A, MEN2B) and non-syndromic (Familial MTC, FMTC) types. Over the last two decades, elucidation of the genetic basis of tumorigenesis has provided useful screening tools for affected families. Advances in genetic screening of the RET have enabled early detection of hereditary MTCs and prophylactic thyroidectomy for relatives who may not show any symptom sof the disease. In this review we emphasize the main RET mutations in syndromic and non syndromic forms of MTC, and focus on the importance of RET genetic screening for early diagnosis and management of MTC patients, based on American Thyroid Association guidelines and genotype-phenotype correlation.

• Journal of the Korean Data and Information Science Society
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• v.20 no.1
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• pp.171-178
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• 2009

In order to make the high quality Korean cattle, it has been identified the gene which influence to various economic characters. In this paper, we introduce Restricted Partition Method for gene-gene interaction analysis. Further, economic traits, longissimus muscle dorsi area (LMA), carcass cold weight (CWT) and average daily gain (ADG) are applied with Restricted Partition Method (RPM). The SNP (19_1)$^*$SNP (28_2) was selected and was best marker on Single nucleotide polymorphisms (SNPs). It also influenced SNP (19_1)$^*$SNP (28_2) was an very important marker for economic character and to make the thing know it became.

• Journal of Genetic Medicine
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• v.11 no.1
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• pp.31-35
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• 2014

Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism and a wide range of secondary features. To date, mutations in 16 genes have been identified as causative factors for BBS. Among them, the BBS1 and BBS10 genes are major disease-causing genes, and each of these gene mutations presents in more than 20% of all BBS patients. Genotype-phenotype correlations have not been observed in BBS, and there can be phenotypic overlap between BBS and other ciliopathies. In Korea, no molecular, genetically confirmed case of BBS has been reported to date. Herein, we describe the case of the first Korean siblings with BBS resulting from 2 BBS10 gene mutations who showed typical clinical phenotypes, including retinal dystrophy, obesity, intellectual disability, cystic tubular disease, and postaxial polydactyly.

• Biomedical Science Letters
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• v.26 no.3
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• pp.149-156
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• 2020

We developed a simple and rapid method for detecting vancomycin resistance genes, such as vanA and vanB, using loop-mediated isothermal amplification (LAMP). To identify not only vancomycin resistance genes, but also the genus Enterococcus, primers were designed for vanA, vanB, and 16S rRNA. Screening for vancomycin susceptibility in Enterococcus was performed using Etest (bioMérieux Inc). The results of the LAMP assay were compared to those of real-time RT-PCR. The optimal conditions for the LAMP assay were 65℃ for 60 min. The detection limits of the LAMP assay for vanA, and vanB were 2 × 10² copies/reaction. Compared to RT-PCR, the sensitivities and specificities of LAMP for 16S rRNA, vanA, and vanB were 100/100%, 100/100%, and 100/100%, respectively. The vanA genotype-vanB phenotype accounted for 57.5% (46/80) of the vancomycin-resistant Enterococci samples collected from 2016 to 2019. In conclusion, the LAMP assay developed in this study showed high sensitivity and specificity for vancomycin-resistant genes. Moreover, due to the simplicity and rapidity of the LAMP assay, its use can be very useful in clinical microbiology laboratories.

• Korean Journal of Veterinary Research
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• v.39 no.4
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• pp.811-818
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• 1999

A total of 16 Staphylococcus epidermidis isolates collected from 14 dogs admitted to the Veterinary Medicial Teaching Hospital in Seoul National University over eleven months were examined for in vitro antibiotic susceptibility pattern with minimum inhibitory concentration (MIC) and slime production, a virulence-associated phenotype, and were genetically characterized by pulsed-field gel electrophoresis (PFGE). The frequency of resistance to antimicrobial agents tested was not high, with a susceptibility ranging from 56.3% to 100%. Three strains exhibited multiple drug resistance against amikacin (MIC, $32-64{\mu}g/ml$), ampicillin ($32{\mu}g/ml$), fosfomycin ($32-128{\mu}g/ml$) and gentamicin ($16{\mu}g/ml$). Vancomycin, ciprofloxacin and rifampin were effective antibiotics against the isolates. All isolates were slime producers ; strains isolated from dogs which died of bacteremia were more likely to produce slime than those isolated from dogs which survived. Chromosomal DNA fingerprinting of the isolates yielded 16 different genomic types with few common bands, indicating a variety of clones of S epidermidis were prevalent in the hospital. This study revealed that PFGE is an useful method for the genotype characterization of S epidermidis strains and this organism could probably be pathogenic in some dogs with severe disorders. Further works on a larger number of epidemiologically defined strains are required to assess these results.

• Parasites, Hosts and Diseases
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• v.47 no.2
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• pp.83-91
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• 2009

The completion of many malaria parasite genomes provides great opportunities for genomewide characterization of gene expression and high-throughput genotyping. Substantial progress in malaria genomics and genotyping has been made recently, particularly the development of various microarray platforms for large-scale characterization of the Plasmodium falciparum genome. Microarray has been used for gene expression analysis, detection of single nucleotide polymorphism (SNP) and copy number variation (CNV), characterization of chromatin modifications, and other applications. Here we discuss some recent advances in genetic mapping and genomic studies of malaria parasites, focusing on the use of high-throughput arrays for the detection of SNP and CNV in the P. falciparum genome. Strategies for genetic mapping of malaria traits are also discussed.