• BMB Reports
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• v.39 no.6
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• pp.766-773
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• 2006

Fragile-X-syndrome (FXS) is the most common type of inherited cognitive impairment. The underlying molecular alteration consists of a CGG-repeat amplification within the FMR-1 gene. The phenotype is only apparent once a threshold in the number of repeats has been exceeded (full mutation). The aim of this study was to characterize the FMR-1 CGG-repeat status in Argentine patients exhibiting mental retardation. A total of 330 blood samples from patients were analyzed by PCR and Southern blot analysis. Initially, DNA from 78 affected individuals were studied by PCR. Since this method is unable to detect high molecular weight alleles, however, we undertook a second approach using the Southern blotting technique to analyze the CGG repeat number and methylation status. Southern blot analysis showed an altered pattern in 14 out of 240 (6%) unrelated patients, with half of them presenting a mosaic pattern. Eight out of 17 families (47%) showed a (suggest deleting highlight). The characteristic FXS pattern was identified in 8/17 families (47%), and in 4 of these families 25% of the individuals presented with a mosaic model. The expansion from pre-mutation to full mutation was shown to occur both at the pre and post zygotic levels. The detection of FXS mutations has allowed us to offer more informed genetic counseling, prenatal diagnosis and reliable patient follow-up.

• Journal of Plant Biotechnology
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• v.46 no.2
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• pp.61-70
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• 2019

There is vast genetic diversity of Myanmar Mangoes. This study mainly focused on indigenous thirteen different mango landraces cultivated in central area of Myanmar, Kyauk-se District and their fruit characteristics by 18 descriptors together with genetic relationship among them by 12 SSR markers. Based on the morpho-physical characters, a wide variation among accessions was found. Genetic characterization of thirteen mango genotypes resulted in the detection of 302 scorable polymorphic bands with an average of 4.33 alleles per locus and an average polymorphism information content (PIC) of 0.7. All the genotypes were grouped into two major clusters by UPGMA cluster analysis and a genetic similarity was observed in a range of 61 ~ 85%. This study may somehow contribute insights into the identification of regional mango diversity in Myanmar and would be useful for future mango breeding program.

• BMB Reports
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• v.42 no.2
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• pp.81-85
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• 2009

Early and accurate detection of drug resistant Mycobacterium tuberculosis can improve both the treatment outcome and public health control of tuberculosis. A number of molecular-based techniques have been developed including ones using probe molecules that target drug resistance-related mutations. Although these techniques are highly specific and sensitive, mixed signals can be obtained when the drug resistant isolates are mixed with drug susceptible isolates. In order to overcome this problem, we developed a new drug susceptibility test (DST) for one of the most effective anti-tuberculosis drug, isoniazid. This technique employed a microplate hybridization assay that quantified signals from each probe molecule, and was evaluated using clinical isolates. The evaluation analysis clearly showed that the microplate hybridization assay was an accurate and rapid method that overcame the limitations of DST based on conventional molecular techniques.

• Journal of Microbiology and Biotechnology
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• v.27 no.12
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• pp.2241-2244
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• 2017

The structure of concanavalin A (ConA) has been studied intensively owing to its specific interactions with carbohydrates and its heterometal ($Ca^{2+}$ and $Mn^{2+}$) coordination. Most structures from X-ray crystallography have shown ConA as a dimer or tetramer, because the complex formation requires specific crystallization conditions. Here, we reported the monomeric structure of ConA with a resolution of $1.6{\AA}$, which revealed that metal coordination could trigger sugar-binding ability. The calcium coordination residue, Asn14, changed the orientation of carbohydrate-binding residues and biophysical details, including structural information, providing valuable clues for the development and application of detection kits using ConA.

• Genomics & Informatics
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• v.18 no.1
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• pp.4.1-4.6
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• 2020

Transposable elements (TEs) constitute approximately half of Bovine genome. They can be a powerful species-specific marker without regression mutations by the structure variation (SV) at the time of genomic evolution. In a previous study, we identified the Hanwoo-specific SV that was generated by a TE-association deletion event using traditional PCR method and Sanger sequencing validation. It could be used as a molecular marker to distinguish different cattle breeds (i.e., Hanwoo vs. Holstein). However, PCR is defective with various final copy quantifications from every sample. Thus, we applied to the droplet digital PCR (ddPCR) platform for accurate quantitative detection of the Hanwoo-specific SV. Although samples have low allele frequency variation within Hanwoo population, ddPCR could perform high sensitive detection with absolute quantification. We aimed to use ddPCR for more accurate quantification than PCR. We suggest that the ddPCR platform is applicable for the quantitative evaluation of molecular markers.

• 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.

• The Journal of Korean Society of Virology
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• v.29 no.1
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• pp.39-44
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• 1999

Warts, or verrucae, are benign epithelial proliferations of the skin and mucosa caused by infection with human papillomaviruses (HPV). It is now recognized that there are many different HPV types. Especially type3 is most frequently observed in flat wart. Other types, such as type2, 10, 14, 27, 28, 29, 38, and 41 are rarely encounted in flat wart. We describe here a simple and economic method for detection and identification of epidermodysplasia verruciformis-associated HPV. The method is based on polymerase chain reaction (PCR) amplification and restriction analysis. The method has been developed with cloned HPV DNA and DNA from clinical samples. Clinical samples are from either frozen tissue or paraffin-embedded tissue. Genomic fragments were obtained from two different HPV types (3 and 10). The amplification fragments were identified by a form of miniature fingerprinting, with a set of restriction enzymes that gave a unique digestion pattern for each HPV type. We have tested 74 clinical samples. Only type3 among these clinical samples is detected, and one sample is involved in neither type3 nor type10.

• Bulletin of the Korean Chemical Society
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• v.25 no.1
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• pp.73-78
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• 2004

A highly sensitive detecting method has been developed for determining part per billion of sulfur in $H_2S$/Ar plasma. The method is based on the excitation of Ar/$H_2S\;or\;Ar/H_2S/O_2$ mixture in hollow cathode glow discharge sustained by radiofrequency (RF) or 60 Hz AC power and the spectroscopic measurement of the intensity of emission lines from electronically excited $S_2^*\;or\;SO_2^*$ species, respectively. The RF or AC power needed for the excitation did not exceed 30 W at a gas pressure maintained at several mbar. The emission intensity from the $SO_2^*$ species showed excellent linear response to the sulfur concentration ranging from 5 ppbv, which correspond to S/N = 5, to 500 ppbv. But the intensity from the $S_2^*$ species showed a linear response to the $H_2S$ only at low flow rate under 20 sccm (mL/min) of the sample gas. Separate experiments using $SO_2$ gas as the source of sulfur demonstrated that the presence of $O_2$ in the argon plasma is essential for obtaining prominent $SO_2^*$ emission lines.

• Journal of Sensor Science and Technology
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• v.32 no.5
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• pp.259-266
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• 2023

The use of various adulterants and harmful chemicals is rapidly increasing in various sectors such as agriculture, food, and pharmaceuticals, and they are also present in our surroundings in the form of pollutants. The regular and repeated intake of harmful chemicals often adversely affects human health. The prolonged exposure of living beings to such adverse components can lead to severe health complications. To avoid the unlimited utilization of these chemical components, a sensing technology that is sensitive and reliable for low-concentration detection is beneficial. Surface-enhanced Raman spectroscopy (SERS) is a powerful method for identifying low-range concentrations of analytes, leading to great applications in molecular identification, including various diagnostic biomarkers. SERS in chemical, gas, and biological sensors can be an excellent approach in the sensing world to achieve rapid and multiple-analyte detection, leading to a new and efficient approach in healthcare monitoring.

• 한국생물공학회:학술대회논문집
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• 2005.04a
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• pp.18-18
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• 2005

Photoinduced electron transport process in nature such as photoelectric conversion and long-range electron transfer in photosynthetic organisms are known to occur not only very efficiently but also unidirectionally through the functional groups of biomolecules. The basic principles in the development of new functional devices can be inspired from the biological systems such as molecular recognition, electron transfer chain, or photosynthetic reaction center. By mimicking the organization of the biological system, molecular electronic devices can be realized $artificially^{1)}$. The nano-fabrication technology of biomolecules was applied to the development of nano-protein chip for simultaneously analyzing many kinds of proteins as a rapid tool for proteome research. The results showed that the self-assembled protein layer had an influence on the sensitivity of the fabricated bio-surface to the target molecules, which would give us a way to fabricate the nano-protein chip with high sensitivity. The results implicate that the biosurface fabrication using self-assembled protein molecules could be successfully applied to the construction of nanoscale bio-photodiode and nano-protein chip based on electrical detection.