• Proceedings of the Korean Society for Bioinformatics Conference
• /
• 2003.10a
• /
• pp.221-228
• /
• 2003

This paper presents a novel method that can identify the individual's haplotype from the given genotypes. Because of the limitation of the conventional single-locus analysis, haplotypes have gained increasing attention in the mapping of complex-disease genes. Conventionally there are two approaches which resolve the individual's haplotypes. One is the molecular haplotypings which have many potential limitations in cost and convenience. The other is the in-silico haplotypings which phase the haplotypes from the diploid genotyped populations, and are cost effective and high-throughput method. In-silico haplotyping is divided into two sub-categories - statistical and computational method. The former computes the frequencies of the common haplotypes, and then resolves the individual's haplotypes. The latter directly resolves the individual's haplotypes using the perfect phylogeny model first proposed by Dan Gusfield [7]. Our method combines two approaches in order to increase the accuracy and the running time. The individuals' haplotypes are resolved by considering the MLE (Maximum Likelihood Estimation) in the process of computing the frequencies of the common haplotypes.

• IMMUNE NETWORK
• /
• v.2 no.4
• /
• pp.248-255
• /
• 2002

Background: TAP1 and TAP2 are two ABC transporter genes located within the class II region of the human MHC. Their protein products form a heterodimer whose function is to transport peptides from the cytoplasm into the endoplasmic reticulum. This study was performed to examine the polymorphism of TAP genes and the distribution of HLA-TAP haplotypes in the Korean population through family analysis. Methods: The subjects used in this study were 50 healthy Korean families consisting of 233 individuals. TAP1 (codons 333 and 637) and TAP2 (codons 379, 565, 577, 651, 665, and 687) typings were carried out by the PCR-restriction fragment length polymorphism (RFLP) method. HLA-DRB1 and DQB1 genotyping results from a previous study were used for HLA-TAP haplotype analysis. Results: The number (gene frequency) of TAP1 and TAP2 alleles detected were 3 for TAP1 (A 81.5%, B 17.0%, and C 1.5%) and 8 for TAP2 (A1 32.0%, A2 12.5%, B 34.0%, Bky2 6.5%, C 7.0%, D 3.0%, E 4.5%, and G 0.5%). Eleven TAP1-TAP2 haplotypes were observed with $frequency{\geq}1%$, among which 4 haplotypes (A-B, B-A1, A-Bky2, and C-E) showed weak but significant positive linkage disequilibrium (P<0.05). When DRB1-DQB1 haplotypes were extended to TAP1 and TAP2 loci, much diversification of haplotypes was observed: 19 different DRB1-DQB1 haplotypes formed 58 different haplotypes extended to TAP1 and TAP2 loci. These results add more evidence to the view that recombination hotspot is present within and around TAP gene region. Conclusion: The allele frequencies of TAP1 and TAP2 genes and the distribution of TAP1-TAP2 and HLA-TAP haplotypes were studied in Koreans based on a family study.

• Journal of Korean Society of Forest Science
• /
• v.96 no.2
• /
• pp.131-137
• /
• 2007

The first evidence has been provided about the variation within trnL-trnV and trnF-trnT spacer regions of cpDNAs in Korean fir and Manchurian fir, revealed by PCR-RFLP analysis. Four cpDNA haplotypes have accordingly been recognized by being analyzed using the trnL-trnV/Tru11 primer-enzyme combination and 3 haplotypes using the trnF-trnT/TagI combination, which exhibited inter and intraspecific variation. A total of 6 cpDNA haplotypes were recognized by pooling the PCR-RFLP variants observed in both combinations. Haplotypes 2 and 3 were common for both species investigated, whereas haplotypes 1, 4, and 5 were detected only in Korean fir and haplotype 6 was detected only in Manchurian fir. Although haplotypes 2 and 3 were common in both species, haplotype 2 was major haplotype for Korean fir and haplotype 3 was one of the 2 major haplotypes for Manchurian fir. Restricted occurrence of haplotype 4 in Mt. Halla and haplotype 5 in Mt. Jiri of the Korean fir may represent the existence of geographic isolation by the sea between them. Diagnostic potential of individual haplotypes in discriminating between the two species as well as between their populations is discussed.

• Animal Systematics, Evolution and Diversity
• /
• v.26 no.3
• /
• pp.183-186
• /
• 2010

To identify Korean red-backed voles (Myodes regulus) from Korea by mitochondrial DNA (mtDNA) sequencing, we obtained mtDNA control region sequences of 17 red-backed voles from Korea and northeast China, and these sequences were compared with the corresponding haplotypes of Myodes obtained from GenBank. We identified five red-backed voles from Mt. Changbai and Harbin as M. rufocanus and another three redbacked voles from Harbin as M. rutilus, respectively. Moreover, nine red-backed voles from Korea, showing the average nucleotide distance of 0.66% among nine haplotypes, were different from other species of Myodes, and the average distance between nine haplotypes of red-backed voles from Korea and seven haplotypes of M. rufocanus was 6.41%, whereas the average distance between nine haplotypes of red-backed voles from Korea and five haplotypes of M. rutilus was 14.8%. We identified the red-backed voles from Korea as M. regulus, and found that M. regulus is distinct in its mtDNA control region sequences as well, although we propose further analyses with additional specimens from East Asia using nuclear and mtDNA markers to confirm the distinctness of M. regulus.

• Animal Systematics, Evolution and Diversity
• /
• v.24 no.2
• /
• pp.169-172
• /
• 2008

Sequences of mitochondrial DNA (mtDNA) cytochrome b gene (1,140 bp) and control region (803 bp) of Siberian flying squirrels from Korea (Pteromys volans aluco) and Mt. Changbai of northeast China (P. v. arsenjevi) were obtained to reexamine the taxonomic status of the Korean subspecies. In the cytochrome b gene, six haplotypes of P. v. aluco formed a clade with six haplotypes of P. v. arsenjevi, and in control region, seven haplotypes of P. v. aluco formed a clade with six haplotypes of P. v. arsenjevi. Furthermore, six haplotypes of cytochrome b gene of P. v. aluco from this study formed a clade with four haplotypes of P. v. arsenjevi in far-east Russia obtained from GenBank. We also investigated the research papers previously published that reported the length of tail vertebrae of P. volans, and found that the length was not sufficiently large as to be a key character of P. v. aluco. This result is not consistent with morphological description for its haplotype. Therefore, we conclude that P. v. aluco from Korea might possibly be a synonym of P. v. arsenjevi from northeast China and nearby Russia.

• Animal cells and systems
• /
• v.8 no.3
• /
• pp.231-233
• /
• 2004

Sequences of cytochrome b gene and control region of mitochondrial DNA from Korean common otters (Lutra lutra lutra L.) were examined to provide the genetic information for the conservation of this subspecies. Two haplotypes and one haplotype were revealed in cytochrome b gene and control region, respectively. The available sequences of European common otter (L. l. lutra) from GenBank were compared together with those of Korean common otter in order to determine the degree of sequence variation between them. In cytochrome b gene sequences, two haplotypes from Korea and two haplotypes of Europe showed differences in 12 of 1,045 sites. The Tamura-Nei nucleotide distances between two European haplotypes was 0.10% and those between two Korean haplotypes was also 0.10%, but those between Korean haplotypes and European ones ranged from 0.96% to 1.16%. In the control region, one Korean haplotype and seven European ones showed differences in seven of 300 sites; the Tamura-Nei distances among seven European haplotypes were 0.34% to 1.01%, but those between Korean haplotype and European ones ranged from 1.01% to 1.69%. Although further molecular and morphological studies with specimens from eastern Asia including Amur region and northeast China are needed, it is possible that the Korean common otter might be closer or identical to the far-eastern Asian common otter, L. l. amurensis Dybowski.

• Asian-Australasian Journal of Animal Sciences
• /
• v.29 no.3
• /
• pp.321-326
• /
• 2016

The porcine major histocompatibility complex (MHC) is called swine leukocyte antigen (SLA), which controls immune responses and transplantation reactions. The SLA is mapped on pig chromosome 7 (SSC7) near the centromere. In this study, 3 class I (SLA-1, SLA-3, and SLA-2) and 3 class II (DRB1, DQB1, and DQA) genes were used for investigation of SLA haplotypes in Yucatan miniature pigs in Korea. This pig breed is a well-known model organism for biomedical research worldwide. The current study indicated that Korean Yucatan pig population had 3 Class I haplotypes (Lr-4.0, Lr-6.0, and Lr-25.0) and 3 class II haplotypes (Lr-0.5, Lr-0.7, and Lr-0.25). The combinations of SLA class I and II haplotype together, 2 homozygous (Lr-4.5/4.5 and Lr-6.7/6.7) and 3 heterozygous (Lr-4.5/6.7, Lr-4.5/25.25, and Lr-6.7/25.25) haplotypes were identified, including previously unidentified new heterozygous haplotypes (Lr-4.5/4.7). In addition, a new SLA allele typing method using Agilent 2100 bioanalyzer was developed that permitted more rapid identification of SLA haplotypes. These results will facilitate the breeding of SLA homozygous Yucatan pigs and will expedite the possible use of these pigs for the biomedical research, especially xenotransplantation research.

• Journal of the Korea Institute of Information and Communication Engineering
• /
• v.17 no.7
• /
• pp.1732-1739
• /
• 2013

The identification of haplotypes, which encode SNPs in a single chromosome, makes it possible to perform a haplotype-based association test with diseases. Given a set of genotypes from a population, the process of recovering the haplotypes that explain the genotypes is called haplotype inference. We propose a new preprocessing algorithm for the haplotype inference by pure parsimony (HIPP). The proposed algorithm excludes a large amount of redundant candidate haplotypes by detecting some groups of haplotypes that are dispensable for optimal solutions. For the well-known synthetic and biological data, the experimental results of our method show that our method run much faster than other preprocessing methods. After applying our preprocessing results, the numbers of haplotypes of HIPP solvers are equal to or slightly larger than that of optimal solutions.

• IMMUNE NETWORK
• /
• v.2 no.4
• /
• pp.242-247
• /
• 2002

Background: Tumor necrosis factor-alpha (TNF-$\alpha$) is known to play an important role in various conditions such as inflammation, autoimmunity, apoptosis, insulin resistance and sleep induction. Five single nucleotide polymorphisms (SNPs) have been known to affect the transcriptional activities of TNF-$\alpha$: -1,031T/C, -863C/A, -857C/T, -308G/A and -238G/A. Methods: We have investigated 5 SNPs of the promoter region of TNF-$\alpha$ gene, the distribution of 5-locus TNF-$\alpha$ haplotypes, and their haplotypic associations with previously typed HLA-A, -B and -DRB1 loci in 107 healthy unrelated Koreans. TNF-$\alpha$ SNPs were typed using PCR-single-strand conformation polymorphism (SSCP) and PCR-restriction fragment length polymorphism (RFLP) methods. Results: The allele frequencies of -1,031C, -863A, -857T, -308A, and-238A, which are known as the high-producer-type, were 19.3%, 15.9%, 14.0%, 5.9%, and 2.9%, respectively. The frequency of -308A allele, known to be associated with autoimmune diseases, was 5.9% in Koreans which was lower than Caucasians (14~17%) and somewhat higher than Japanese (1.7%). Five most common TNF-$\alpha$ haplotypes (-1,031/-863/-857/-308/-238) comprised over 95% of total haplotypes: TCCGG (58.4%), CACGG (14.8%), TCTGG (13.7%), TCCAG (5.3%), and CCCGA (3.1%). Strong positive associations (P<0.001) were observed between TCCGG and B62; between CACGG and B51, $DRB1^*0901$; between TCTGG and B35, B54, B59, $DRB1^*1201$; and between TCCAG and A33, B58, $DRB1^*0301$, $DRB1^*1302$. Five most common extended haplotypes (>3%) comprised around 16% of total haplotypes: A33-B58-TCCAG-$DRB1^*1302$, A24-B52-TCCGG-$DRB1^*1502$, A33-B44-TCCGG-$DRB1^*1302$, A24-B7-TCCGG-$DRB1^*0101$, and A11-B62-TCCGG-$DRB1^*0406$. The distribution of extended HLA and TNF-$\alpha$ haplotypes showed that most of HLA haplotypes were almost exclusively associated with particular TNF-$\alpha$ haplotypes. Conclusion: The results obtained in this study would be useful as basic data for anthropologic studies and disease association studies in Koreans.

• Genomics & Informatics
• /
• v.12 no.4
• /
• pp.165-170
• /
• 2014

Genome-wide association (GWA) studies have found many important genetic variants that affect various traits. Since these studies are useful to investigate untyped but causal variants using linkage disequilibrium (LD), it would be useful to explore the haplotypes of single-nucleotide polymorphisms (SNPs) within the same LD block of significant associations based on high-density variants from population references. Here, we tried to make a haplotype catalog affecting body mass index (BMI) through an integrative analysis of previously published whole-genome next-generation sequencing (NGS) data of 7 representative Korean individuals and previously known Korean GWA signals. We selected 435 SNPs that were significantly associated with BMI from the GWA analysis and searched 53 LD ranges nearby those SNPs. With the NGS data, the haplotypes were phased within the LDs. A total of 44 possible haplotype blocks for Korean BMI were cataloged. Although the current result constitutes little data, this study provides new insights that may help to identify important haplotypes for traits and low variants nearby significant SNPs. Furthermore, we can build a more comprehensive catalog as a larger dataset becomes available.