• The Journal of Korean Academy of Prosthodontics
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• v.49 no.4
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• pp.341-345
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• 2011

Genetic association study has been progressed in medicine along with advance in genetic technology. It focused on the individual differences in genotype due to errors occurring during DNA duplication, which can cause vulnerability to specific diseases. Polymorphism defines the varieties in phenotype due to those genetic variations. Polymorphism due to change in one DNA base sequence is called as a Single Nucleotide Polymorphism. In the near future, the evaluation of relative risk to specific disease according to SNP will be essential part of fundamental of medicine for the diagnosis, treatment and prevention. Dental caries and periodontal diseases has been first subject to genetic association study in dentistry and broaden out to other areas like bone formation and resorption. This article presents the current state of genetic association study and its application to dentistry.

• Korean Journal of Medicinal Crop Science
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• v.18 no.6
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• pp.379-388
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• 2010

Adenophora racemosa is recently reported as a new Korean endemic plant species. However, the phylogenetic relationship of this genus has been controversial due to the morphological similarity and frequent morphological change of aerial parts. To verify the phylogenetic position of Adenophora racemosa and phylogenetic relationship of genus Adenophora, we analyzed the internal transcribed spacer (ITS) sequence of nuclear ribosomal DNA (nrDNA) and random amplified polymorphic DNA (RAPD) using 21 individual of 6 Adenophora species, A. verticillata, A. divaricata, A. racemosa, A. remotiflora, A. stricata and A. tetraphylla. In comparative analysis of the nrDNA-ITS sequences, we could not found not only any species specific nucleotide sequence but also could not estimated their inter or intra species. In the phylogenic analysis based on the RAPD derived DNA polymorphism, Adenophora species were classified into four groups by clustering analysis of the UPGMA. These results suggest that the DNA fingerprinting based on RAPD is more suitable than nrDNA-ITS sequence for the phylogenetic analysis of Adenophora species.

• The Plant Pathology Journal
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• v.18 no.6
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• pp.308-312
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• 2002

Heteroduplex mobility assay (HMA) and single-strand conformation polymorphism (SSCP) analyses combined with PCR were developed for genetic differentiation of various phytoplasma isolates. In the HMA and SSCP analyses, differences in the mobility shifts and the SSCP band patterns identified three distinct types of phyto-plasmas: Type Ⅰ, jujube witches'-broom (JWB) and ligustrum witches'-broom (LiWB); Type Ⅱ, mulberry dwarf（MD) and sumac witches'-broom (SuWB); and Type Ⅲ, paulownia witches'-broom (PaWB). Results of the sequence analyses revealed that phytoplasmas of JWB and MD had 100％ homology with LiWB and SuWB, respectively. On the other hand, PaWB phyto-plasma had 97.8% homology with MD phytoplasma. The PCR-HMA and SSCP techniques were very useful in determining variations in sequence among several isolates of phytoplasmas. Furthermore, the methods were rapid, economical, highly sensitive, and easy to handle with the gels.

• 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.

• Journal of Animal Science and Technology
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• v.46 no.5
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• pp.729-734
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• 2004

This study was performed to analyze the sequence variations of mtDNA D-loop and their effects on milk in Hanwoo(Korean cattle). The resulting sequences were compared with previously published sequences for other cattle breeds (GenBank JOI394). The Polymerase Chain Reaction was performed to amplify a total of 964 bp between nucleotide 15758 and 383 within D-loop region of mtDNA using specific primers. Twenty polymorphic sites by nucleotide substitution were found in mtDNA D-loop region of Hanwoo. The frequencies of positions at 8, 169, 16042, 16051, 16057, 16093, 16119, 16122, 16209, 16255 and 16302 nt with high levels of sequence polymorphism were 0.150, 0.950, 0.085, 0.138, 0.106, 0.085, 0.138, 0.212, 0.085, 0.148 and 0.180, respectively. The substitution effect at 16119(p<0.1) and 16185(p< 0.05) nt was found significant on milk production. Polymorphism of mtDNA sequence in D-Ioop region could be useful for the analysis of cytoplasmic genetic variation and associations with the other economically important traits and maternal lineage analysis in Hanwoo.

• Archives of Pharmacal Research
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• v.23 no.4
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• pp.418-423
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• 2000

Oka strain VR-795 (Varicella Zoster Virus, VZV) of American Type Culture Collection (ATCC) has been used for chickenpox vaccine production. In order to use this strain for vaccine production, the strain must be identified and its stability must be confirmed. The identification of the Oka strain has been confirmed using Restriction Fragment Length Polymorphism (RFLP) and DNA sequence analysis of glycoprotein-II (gp-II). The amino acid sequences of Oka deduced from the DNA sequence of gp-II have changed at three amino acids against Ellen and at one amino acid against Webster. To prove the stability of the Oka strain during the passage, RFLP and DNA sequence analyses were also used with 11, 15 and 23 times of virus passage. We found that the Oka strain was stable at passages of up to 23 times, based on the RFLP and DNA sequence analyses. The confirmed Oka strain was renamed as BR-Oka for the purposes of chickenpox vaccine production.

• Journal of Ginseng Research
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• v.40 no.2
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• pp.176-184
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• 2016

Background: Wild ginseng, Panax ginseng Meyer, is an endangered species of medicinal plants. In the present study, we analyzed variations within the ribosomal DNA (rDNA) cluster to gain insight into the genetic diversity of the Oriental ginseng, P. ginseng, at artificial plant cultivation. Methods: The roots of wild P. ginseng plants were sampled from a nonprotected natural population of the Russian Far East. The slides were prepared from leaf tissues using the squash technique for cytogenetic analysis. The 18S rDNA sequences were cloned and sequenced. The distribution of nucleotide diversity, recombination events, and interspecific phylogenies for the total 18S rDNA sequence data set was also examined. Results: In mesophyll cells, mononucleolar nuclei were estimated to be dominant (75.7%), while the remaining nuclei contained two to four nucleoli. Among the analyzed 18S rDNA clones, 20% were identical to the 18S rDNA sequence of P. ginseng from Japan, and other clones differed in one to six substitutions. The nucleotide polymorphism was more expressed at the positions 440-640 bp, and distributed in variable regions, expansion segments, and conservative elements of core structure. The phylogenetic analysis confirmed conspecificity of ginseng plants cultivated in different regions, with two fixed mutations between P. ginseng and other species. Conclusion: This study identified the evidences of the intragenomic nucleotide polymorphism in the 18S rDNA sequences of P. ginseng. These data suggest that, in cultivated plants, the observed genome instability may influence the synthesis of biologically active compounds, which are widely used in traditional medicine.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.8
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• pp.4183-4186
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• 2012

Background: Ovarian cancer is the number one killer among all the gynecological cancers. We undertook association study to identify potential alterations in the genomic DNA of a DNA repair gene, DNA polymerase beta ($pol{\beta}$), involved in base excision repair (BER), in ovarian carcinomas of patients from Haldia, India. Mutations, splice variants have been reported earlier in different tumors other than ovarian tumors. Aim: In this study we explored the possibility of association of any mutation of $pol{\beta}$ (Exon 8) with prognosis in 152 ovarian cancer samples. Results: Alteration in the exon 8 region (Exon 8:468, $A{\rightarrow}C$; 15.1%) was noted among fifty seven polymorphism positive samples. Alteration in the intervening sequence 8 (IVS8, -25, $A{\rightarrow}C$; 3.9%) was also noted. All alterations are heterozygous in nature. Conclusions: We found no significant association among the samples from serous type, stage IV, and the $pol{\beta}$ mutations ($P{\leq}0.01$). Only a slight tendency of association was evident between IVS8, -25, A to C; and stage III. Further analysis with a larger number of samples is needed.

• Korean Journal of Plant Resources
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• v.27 no.3
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• pp.249-255
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• 2014

The rice belonging to Oryza sativa is not only has significant economic importance, for it is the major source of nutrition for about 3 billion all around the world. But also plays a vital role as a model organism, because it has a number of advantages to be a model plant, such as efficient transformation system and small genome size. Many methods and techniques have been conducted to attempt to distinguish different Oryza sativa species, such as amplified fragment length polymorphism (AFLP), random amplified polymorphic DNA (RAPD), simple sequence repeat (SSR) and so on. However, studies using sequence analysis of internal transcribed spacer (ITS), a region of ribosomal RNA has not been reported until now. This study was undertaken with an aim to understand the phylogenetic relationships among sixteen isolates of Oryza sativa collected from abroad and fifteen isolates collected from Korea, using ribosomal RNA (rRNA) internal transcribed spacer (ITS) sequences to compare the phylogeny relationships among different Oryza sativa species. The size variation obtained among sequenced nuclear ribosomal DNA (nrDNA) ITS region ranged from 515bp to 1000bp. The highest interspecific genetic distance (GD) was found between Sfejare 45 (FR12) and Anapuruna (FR15). Taebong isolate showed the least dissimilarity of the ITS region sequence with other thirty isolates. This consequence will help us further understanding molecular diversification in intra-species population and their phylogenetic analysis.

• Journal of Crop Science and Biotechnology
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• v.10 no.2
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• pp.98-105
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• 2007

Phylogenetic relationships in Korean watermelons were evaluated by genetic similarity coefficients using 15 SSR(simple sequence repeat), 14 SCAR(sequence characterized amplified region) and 14 CAPS(sequence characterized amplified region) markers. The SSR markers were selected from previously reported melon and watermelon SSRs through testing polymorphisms within a set of commercial $F_1$ varieties. The SCAR and CAPS markers were developed from polymorphic AFLP(amplified fragment length polymorphism) markers between inbred lines 'BN4001' and 'BN4002'. From the AFLP analysis, 105 polymorphic fragments were identified between the inbred lines using 1,440 primer combinations of EcoRI+CNNN and XbaI+ANNN. Based on the sequencing data of these polymorphic fragments, we synthesized sequence specific primer pairs and detected clear and reliable polymorphisms in 27 primer pairs by indels(insertion/deletion) or RFLP(restriction fragment length polymorphism). A total of 43 sequence-based PCR markers were obtained and polymorphic information content(PIC) was analyzed to measure the informativeness of each marker in watermelon varieties. The average PIC value of SCAR markers was 0.41, which was similar to that of SSR markers. Genetic diversity was also estimated by using these markers to assess the phylogenetic relationships among commercial varieties of watermelon. These markers differentiated 26 Korean watermelon varieties into two major phylogenetic groups, but this grouping was not significantly correlated with their morphological and physiological characteristics. The mean genetic similarity was 66% within the complete set of 26 commercial varieties. In addition, these sequence-based PCR markers were reliable and useful to identify cultivars and genotypes of watermelon.