• Journal of the Korea Academia-Industrial cooperation Society
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• v.11 no.2
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• pp.720-726
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• 2010

Haplotype-based research has become increasingly important in the field of personalized medicine since the haplotype reflects a set of SNPs (Single Nucleotide Polymorphisms) that are genetically associated and inherited together. Currently, the most widely used application softwares available for haplotype reconstruction, based on in silico method, include PL-EM, Haplotyper, PHASE and HAP. PL-EM, Haplotyper and PHASE are command-line application running on LINUX or Unix system and HAP is a web-based client-server application. This paper deals with an integrated haplotype reconstruction system that have been developed with PL-EM and Haplotyper selected from the accuracy test with experimentally verified data on public application softwares. This integrated system is a kind of client-sever one with user friendly web interface and can provide end-users with a high quality of haplotype analysis. SNPs genotype data with a length of 5 derived from 5 people and SNPs genotype data with a length of 13 derived from 15 people were used to test the analysis results of Haplotyper and PL-EM respectively. As a result, this system has been confirmed to provide the systematic and easy-to-understand analysis results that consist of two main parts, i.e. individual haplotype information and haplotype pool information. In this respect, the integration system will be utilized as a useful tool for the discovery of disease related genes and the development of personalized drugs through facilitating the reconstruction of haplotype maps.

• Journal of Life Science
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• v.26 no.7
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• pp.749-757
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• 2016

This study was carried out to reveal the genetic population structure of the Jeju Island population and the phylogenetic relationship of East Asian populations of the large-footed bat (Myotis macrodactylus) based on the genetic polymorphisms of mitochondrial cytochrome B (CYTB) and NADH dehydrogenase subunit 1 (ND1) gene sequences. A total of fourteen and nine haplotypes were found in the CYTB and ND1 sequences from East Asian bats, respectively. Haplotype distribution showed locality specific patterns. The results from ND1 haplotype analysis showed that the Jeju Island population has four haplotypes: the Mt. Halla and Western subpopulations have three ND1 haplotypes, but the Eastern subpopulation has just a single haplotype Nd03, which is commonly found on this island. The neighbor-joining (NJ) tree showed the closer relationship between Jeju Island and Japan rather than that between Jeju and Gangwon-do Province. The divergence time between the maternal ancestor lineages of Japanese and Chinese populations was estimated to be 0.789±0.063 MYBP. The secondary divergence between Jeju and Japanese bats was calculated about to be 0.168±0.013 MYBP. The Jeju population has immigrated to the island at least fifty thousand years ago. In addition, ND1 haplotype analysis suggested that the insular bats have experienced at least two further genetic differentiation events within this island. Consequently, these findings suggested that the results of this study may play a critical role in understanding the phylogenetic relationship among East Asian bat populations of M. macrodactylus. To prepare more explainable information on evolutionary correlation, analysis is still required to examine using expanded samples from China, Russia, and southern parts of the Korean Peninsula.

• Genomics & Informatics
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• v.2 no.2
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• pp.107-109
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• 2004

HapAnalyzer is an analysis system that provides minimum analysis methods for the SNP-based association studies. It consists of Hardy-Weinberg equilibrium (HWE) test, linkage disequilibrium (LD) computation, haplotype reconstruction, and SNP (or haplotype)-phenotype association assessment. It is well suited to a case-control association study for the unrelated population.

• Korean Journal of Poultry Science
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• v.41 no.4
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• pp.235-240
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• 2014

Recently, the consumption of duck meat has been gradually increased in Korea. However, most of the duck breeds in Korea were imported from overseas. Based on the large demands for the breeding stocks of native ducks, a new project for the commercial use of the Korean native ducks has been launched. For the initial investigation of the relationships between Korean native duck (KND) with other duck breeds, the sequences from D-loop control region in mitochondrial DNA (mtDNA) was used. The results from phylogenetic analysis indicated that both KND and White Commercial Duck (WCD) breeds were classified well with wild duck breeds. However, mallard duck was not discriminated well with KND. The haplotype analysis indicated that KND and WCD have eight different haplotypes with eleven SNPs. Three haplotypes (haplotype 1, 3, 4) were shared both in KND and WCD. On the other hand, haplotype 1 was appeared only KND and haplotype 5, 6, 7, 8 were identified only in WCD population. With further verifications, the results presented here can be used for the conservation and commercialization of the Korean native ducks.

• Analytical Science and Technology
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• v.18 no.4
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• pp.362-367
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• 2005

The human mitochondrial genome (mtDNA) has been an important tool in the field of forensic investigations. Within the entire mtDNA molecule, the non-coding control region which is approximately 1,100 bp including hypervariable region I and II (HV1 and HV2) is widely studied because it is highly polymorphic and useful for human identification purposes. In this study, 360 unrelated Koreans were analyzed in HV1. The number of polymorphic sites and genetic lineage were 124 and 210, respectively. The most prevalent substitution was C-T and 75.8% of DNA showed C-T substitution at 16223. There were 20 kinds of polymorphism between 16180 and 16193 including insertion and deletion. The most frequent haplotype was [16223T, 16362C] representing 5%. Approximately 25.9% of DNA showed the same haplotype in at least two samples. The gene diversity was calculated to 0.996 and the probability of two unrelated perosons having the same haplotype was determined to 0.7%.

• The Korean Journal of Applied Statistics
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• v.16 no.2
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• pp.195-202
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• 2003

Haplotype analysis in SNP is very useful for the study of complex genetic disease due to low cost and high efficiency comparing to individual analysis of each SNP, and is functionally important in biological view. But, the gametic phase of haplotypes is usually unknown in SNP group, and it is difficult to predict haplotype proportions. In this study, haplotype proportions were estimated using EM algorithm from diploid data of SNP group in solid tumor group and normal group. From these results, linkage disequilibrium among SNPs was analyzed.

• Journal of Life Science
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• v.16 no.5
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• pp.812-827
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• 2006

To investigate the population structure and geographic distance among anchovies (Engraulis japonicus) in Korea, we compared and analyzed the mitochondrial DNA control region sequences (227 bp) of anchovies from 12 localities in inshore and offshore waters. The sequence analysis of 84 individuals showed 29 haplotypes, ranging in sequence divergence by pairwise comparisons from 0.3% to 3.5% (1 bp-12 bp). E9 haplotype of anchovies were found largely in inshore waters and also in offshore waters, which was regarded as the major source in Korean waters (58.3%). However, E26, E27, E28, and E29 haplotypes were found in westsouthern (locality 10, four among 7). Phylogenetic analysis using PHYLIP was divided into two clades (clade A and B). Most of the haplotypes, excluding E26, E27, E28, and E29, were strongly supported by bootstrap analysis (>75%), whereas the relationship between clade A and B was weakly supported by bootstrap analysis (51%). High levels of genetic diversity were found; haplotype diversity (H)=0.75-1.00, and nucleotide diversity $({\pi})=0.015-0.0244$. Analysis of $F_{ST}$ between populations in inshore waters ranged in 0.01-0.05, whereas those of offshore waters ranged in 0.01-0.58. A high gene flow occurred in inshore (Nm=22.61-34.22) and offshore (Nm=11.57-45.67) populations. The distribution of mitochondrial DNA haplotypes between westsouthern and other populations was suggestive of significantly different differentiation ($F_{ST}$=0.20-0.59, p<0.05; d=0.52, p=0.00; ${\phi}=0.02-0.41$, p＜0.05). These results suggested that the overall anchovy population in the Korean peninsula caused considerable migration due to the mitochondrial gene flow between inshore and offshore populations to form a genetically homogenous and panmictic structure, although a heterogeneous population was found in this study.

• The Korean Journal of Applied Statistics
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• v.18 no.2
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• pp.297-310
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• 2005

In this study we investigate the association between the haplotype block of 4 SNPs in ACE genes and hypertension with a case-control dataset of size of 277 and 40 families data collected from Kangwha studies. To this end we perform a haplotype-based case-control association study and a haplotype-based TDT study. We do the same analysis with tag-SNPs that can identify the haplotype block. Through a cladogram analysis we make the evolution-tree of haplotypes and then classify the haplotypes into a few clades by collecting haplotypes exposed to the disease to the same extent. We also discuss the association between these clades and hypertension.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.7
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• pp.3615-3617
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• 2016

Background: Breast cancer molecular analysis by linkage analysis has the advantage of facilitating early diagnosis in asymptomatic genetic carriers, with a view to the preventive follow-up of these subjects and genetic counseling. The aim of this study was to evaluate BRCA1 gene D17S855 and D17S1322 markers in breast cancer patients. Materials and Methods: A series of 85 BC patients and 85 unrelated healthy women were recruited for haplotype analysis performed using two short tandem repeat markers located within the BRCA1 gene locus. Each marker was amplified with PCR genomic DNA from each individual and fluorescently end-labeled primers. Results: Both D17S855 and D17S1322 markers included 12 kinds of alleles. Results indicate that most of the BC patients shared two common 121-150 (11.2%, RR=1.56 and p=0.02) and 121-146 (5.6%, RR=1.9 and p=0.02) haplotypes. Conclusions: Our results should be helpful to understand the haplotype phase in the BRCA1 gene and establish a genetic screening strategy in the Iranian population.

• Journal of Sericultural and Entomological Science
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• v.51 no.2
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• pp.201-206
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• 2013

Aporia crataegi, an Korean endangered species, was first analyzed for DNA barcode sequences based on 28-year-old dried specimens and compared barcode characters with 36 individuals of ten geographical populations of Eurasia. They were revealed to consist of five different haplotypes. Among them, haplotype I was mostly extensive and high frequency with 75%. The south Korean individuals were confirmed to be belonging to haplotype I and have no genetic isolation on COI gene. By these results, we consider that selection of the identical haplotype from other geographical populations may be a requirement prior to performing for conservation and restoration of the Korean population. We also propose to analyse the additional genetic markers in order to understand a more accurate genetic structures between haplotypes of this species.