• The Journal of the Korea Contents Association
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• v.22 no.2
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• pp.762-769
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• 2022

Genetic testing in prenatal diagnosis is a precious tool providing valuable information in clinical management and parental decision-making. For the last year, cytogenetic testing methods, such as G-banding karyotype analysis, fluorescent in situ hybridization, chromosomal microarray, and gene panels have evolved to become part of routine laboratory testing. However, the limitations of each of these methods demonstrate the need for a revolutionary technology that can alleviate the need for multiple technologies. The recent introduction of new genomic technologies based on next-generation sequencing has changed the current practice of prenatal testing. The promise of these innovations lies in the fast and cost-effective generation of genome-scale sequence data with exquisite resolution and accuracy for prenatal diagnosis. Here, we review the current state of sequencing-based pediatric diagnostics, associated challenges, as well as future prospects.

• The Journal of the Petrological Society of Korea
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• v.19 no.3
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• pp.209-225
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• 2010

The Shinri area near the Yedang Lake, the eastern part of the Hongseong area in SW Gyeonggi Massif, consists of the Neoproterozoic Duckjeongri granodiorite-tonalite, mylonitized amphibole-bearing orthogneiss and impure marble with lens-shaped garnet-bearing metabasites. In this paper, we report mineralogical and geochemical data of Neoproterozoic lens-shaped garnet-bearing metabasites within marble of the Shinri area. The $SiO_2$ contents of garnet-bearing metabasites in marble vary between ~46.98 and 51.17 wt%, and the $Na_2O$ + $K_2O$ contents fall between ~1.95 and 2.85 wt%, similar to the tholeiitic sub-alkaline basaltic rocks. In the Zr/Y vs. Zr diagram, garnet-bearing metabasites also plot in the subalkaline basaltic rocks. The chondrite-normalized REE patterns for Shinri garnet-bearing metabasites show relatively flat patterns to that of chondrite. They show slight LREE-enriched and depleted patterns. The major and trace element data from lens-shaped garnet-bearing metabasites in marble of the Shinri area suggest that these rocks were formed in within plate. In contrast, previous major and trace element data of high pressure type garnet-bearing metabasites from the mafic-ultramafic complex in the Baekdong and Bibong areas suggest that these rocks were formed in a nascent arc to backarc spreading center within subduction zone setting. Based on mineral assemblage and mineral chemistry, P-T estimates for Shinri garnet-bearing metabasites are 9.6-12.7 kb, $695-840^{\circ}C$ for inclusions in the core, and 9.6-13.6 kb, $630-755^{\circ}C$ for those in the rim. These P-T estimates are distinct from those of the Baekdong and Bibong garnet-bearing metabasites with isothermal decompressional retrograde P-T path. In addition to Triassic tectonic activity previously reported in the Shinri area of Hongseong, the details of metamorphic history such as protolith age and Neo-Proterozoic metamorphic episode need to be solved.

• Reproductive and Developmental Biology
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• v.29 no.1
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• pp.9-13
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• 2005

This study was performed to analyze the sequence variation in mtDNA D-loop and their effects on milk and milk fat production in Holstein cows. The analyzed sequences were compared with previously published sequences from other cattle breeds (GenBank J01394). PCR was performed to amplify a total of 964 bp between nucleotide 15758 and 383 within D-loop region of mtDNA using specific primers. Thirty five polymorphic sites by nucleotide substitution were found in mtDNA. The frequencies of positions at 106, 169, 16057, 16231 and 16255 nt with high levels of sequence polymorphism were 0.090, 0.555, 0.055, 0.090 and 0.050, respectively. The substitution effect at 169 nt was found significant on milk production, and substitution effect at 16118, 16139 and 16302 nt was highly significant (p<0.1) on milk fat production. Polymorphism of mtDNA sequence in D-loop region might be useful for the analysis of cytoplasmic genetic variation and associations with the other economically important traits and maternal lineage analysis in Holstein cows.

• Korean Journal of Medicinal Crop Science
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• v.16 no.1
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• pp.20-26
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• 2008

Anemarrhena asphodeloides (Korean name "Ji-Mo") has been used for oriental medicinal purposes in Korea, China and Japan. In this study, 29 A. asphodeloides samples were collected including 3 certified A. asphodeloides plants and many commercially marketed A. asphodeloides products. Chloroplast trnL-F regions of the "Ji-Mo" samples were sequenced and used to identify whether the samples were genuine A. asphodeloides or not. As the result, the trnL-F sequences of all the "Ji-Mo" samples were shown to be identical and it was proven that commercially available medicinal products "Ji-Mo" are genuine A. asphodeloides. Phylogenetic tree of. A. asphodeloides using the trnL-F sequences was constructed and compared with phylogenetic tree using rubisco large subunit (rbcL) gene sequences. In these tree, A. asphodeloides was affiliated in the family Agavaceae in the order Asparagales. It is proven that trnL-F phylogenetic tree is useful to study taxonomic position of A. asphodeloides.

• Korean Journal of Ichthyology
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• v.25 no.3
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• pp.149-156
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• 2013

Phylogenetic relationships and DNA polymorphism among local populations of two Korean gobiidae species: Boleophthalmus pectinirostris and Scartelaos gigas were investigated based on 12S and 16S mitochondrial DNA and mitochondrial cytochrome b DNA sequences. DNA polymorphisms of B. pectinirostris between Suncheon and Gunsan populations were 100% identity from 434 bp segment of 12S rRNA gene and from 444 bp segment of mitochondrial cytochrome b genes, and 99.6% (2 bp different) identity from 484 bp segments of 16S rRNA genes. These results indicated the long period of geographic isolation between two populations of B. pectinirostris in Korea caused such high degrees of DNA polymorphisms. Based on the phylogenetic tree constructed from the two gobiid species in Korea, two genetically distinct groups of B. pectinirostris and S. gigas groups were recognized.

• Journal of Life Science
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• v.12 no.2
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• pp.188-199
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• 2002

A gene coding for xylanase from thermo-tolerant Bacillus pumilus TX703 was cloned into Escherichia coli DH5 $\alpha$ using pUC19. Among 7,400 transformants, four transformants showed clear zones on the detection agar plates containing oat-spells xylan. One of them which showed highest xylanase activity was selected and its recombinant plasmid, named pXES106, was found to carry 2.24 kb insert DNA fragment. When the nucleotide sequence of the cloned xylanase gene (xynK) was determined, xynK gene was found to consist of 1,227 base-pair open reading frame coding for a polypeptide of 409 amino acids with a deduced molecular weight of 48 kDa. The coding sequence was preceded by a putative ribosome binding site, the transcription initiation signals, and cia-acting catabolite responsive element. The deduced amino acids sequence of xylanase is similar to those of the xylanases from Hordeum vulgare (barley) and Clostridium thermocellum, with 39 and 31% identical residues, respectively. The amino acids sequence of this xylanase was quite different from those of the xylanases from other Bacillus species.

• Journal of Korean Society of Forest Science
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• v.96 no.4
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• pp.425-431
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• 2007

To investigate genetic diversity and PCR detection of Rhizina undulata, PCR detection and sequence analysis of rDNA ITS region of R. undulata in soil were analyzed and developed. The length of partial 18S rDNA from four R. undulata isolates were 1,375 nt. The sequence similarity of R. undulata isolates was 100%. The rDNA ITS regions of R. undulata isolates were 585 nt long. Nucleotide sequencing of the ITS regions showed that PDK-1, PTT-1 and PDJ-9 isolates had 100% sequence identity. But, PDS-5 isolate differed from the three isolates by two nucleotide substitution. R. undulata-specific primers designed by the sequence of ITS region were used in PCR detection of R. undulata. PCR products about 525 bp size, which is specific to R. undulata, were amplified from total DNAs of R. undulata isolates. To assay the sensitivity of PCR detection by R. undulata ITS-specific primer, purely cultured mycelial suspension of R. undulata was serially diluted and mixed with 100g of sterile sandy loam soil, respectively. And then, PCR products of total DNAs extracted from each mycelium-soil mixtures were analysed. The PCR protocol could detected up to 1ng mycelium of R. undulata within 100g of soil.

• KSBB Journal
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• v.24 no.4
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• pp.410-414
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• 2009

Single-nucleotide polymorphisms (SNPs) are the DNA sequences difference among the same species in the level of nucleic acids and are widely applied in clinical fields such as personalized medicine. The routine and labor-intensive methods to determine SNPs are performing the sequence homology search by using BLAST and navigating the trace of chromatogram files generated by high-throughput DNA sequencing machine by using Chromas program. In this paper, we developed SNPchaser, a web-based program for detecting SNPs substitution and heterozygosity existence, to improve the labor-intensive method in determining SNPs. SNPchaser performed sequence alignment and visualized the suspected region of SNPs by using user's reference sequence, AB1 files, and positional information of SNPs. It simultaneously provided the results of sequences alignment and chromatogram of relevant area of SNPs to user. In addition, SNPchaser can easily determine existence of heterozygosity in SNPs area. SNPchaser is freely accessible via the web site http://www.bioinformatics.ac.kr/SNPchaser and the source codes are available for academic research purpose.

• Korean journal of applied entomology
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• v.52 no.4
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• pp.395-402
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• 2013

Since 2000, a large number of molecular studies have been conducted in Hexapoda with generating large amount of mitochondrial sequences. In this study, to review mitochondrial COI sequences and their molecular studies reported in Hexapoda from 2000 to 2009, 488 molecular studies conducted based on 58,323 COI sequences were categorized according to 26 orders and the positions of COI sequences (5', 3', and entire regions). The numbers of molecular studies in which the three regions utilized varied largely among the 26 orders; however, seven orders showed preferred positions of COI sequences in the researches: Diptera and Orthoptera revealed the largest number of studies in the 5' region; while, Coleoptera, Phthiraptera, Odonata, Phasmatodea, and Psocoptera, showed the largest number of studies in the 3' region. From comparing 84 molecular studies published before 2000, we observed the possibilities that molecular studies in Coleoptera, Diptera, Phthiraptera, and Phasmatodea from 2000 to 2009 had been followed classical studies using the positions of COI sequences well-known until 1999. This study provides useful information to understand the overall trends in COI sequence usages as well as molecular studies conducted from 2000 to 2009 in Hexapoda.

• Tuberculosis and Respiratory Diseases
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• v.50 no.1
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• pp.94-105
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• 2001

Background : Examining the biological susceptibility of Mycobacterium tuberculosis to pyrazinamide (PZA) in vitro is very difficult as PZA is inactive under normal culture conditions. The biological susceptibility test, an enzyme assay for Pzase activity, and a genetic test for pncA gene mutations, were performed in order to predict PZA resistance. Methods : 28 cultured clinical isolates of Mycobacterium tuberculosis were tested. The biological susceptibility was performed by the absolute concentration method using Lowenstein-Jensen media. The PZase activity was tested by means of Wayne's method. A 710-bp region includes the entire open reading frame of pncA was amplified and sequenced. Results : All six strains with positive PZase activity exhibited no pncA mutations with one strain showing a false resistance in the biological susceptibility test. Among the 22 strains with no PZase activity, 21 exhibited showed pncA mutations. In the biological susceptibility test, 20 strains were resistant, and one was susceptible, and the other flied to test. The mutation types varied with ten missense, one silent and one nonsense mutation 1 slipped-strand mispairing, and 6 frameshift mutations. Three strains had an adenine to guanine mutation at position -11 upstream of the start codon. Conclusion : The mutation at the pncA promotor region is frequent at -11 upstream position. Automatic sequencing of pncA is a useful tool for rapid and accurate detection of PZA resistant M. tuberculosis, and for demonstrating the epidemiological relatedness of the PZA resistant M. tuberculosis strains.