• Genomics & Informatics
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• v.8 no.3
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• pp.108-115
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• 2010

Hypertension is the most prevalent disease worldwide and is itself a risk factor for cerebral, cardiac, and renal diseases. The inconsistency of candidate genes suggested by previous genomewide association studies (GWASs) may be due to not only differences in study design and genetic or environmental background but also the difference in the power of analysis between continuous traits and discrete traits. We analyzed 352,228 single nucleotide polymorphisms (SNPs) in 8842 unrelated Koreans obtained from Ansan and Ansung cohorts. We performed a series of GWA analyses using three different phenotype models; young hypertensive cases (278 subjects) versus elderly normotensive controls (680 subjects); the upper 25% (2211 hypertensive cases) versus the lower 25% of the SBP distribution (2211 hypotensive controls); and finally SBP and DBP as continuous traits (8842 subjects). The numbers of young hypertensive cases and elderly normotensive controls were not large enough to achieve genomewide significance. The model comparing the upper 25% subjects to the lower 25% of subjects showed a power that was approximate to that of QTL analysis. Two neighboring SNPs of the ATP2B1 gene, rs17249754 (SBP, p=$2.53^{-10}$; DBP, p=$1.28{\times}10^{-8}$) and rs7136259 (SBP, p=$1.30{\times}10^{-9}$; DBP, p=$6.41{\times}10^{-8}$), were associated with both SBP and DBP. Interestingly, a SNP of the RPL6 gene, rs11066280, revealed a significant genomewide association with SBP in men only (p=$3.85{\times}10^{-8}$), and four SNPs located near the MAN2A1 gene showed a strong association with DBP only in elderly men aged 60-70 years (e.g., rs6421827, p=$4.86{\times}10^{-8}$). However, we did not observe any gene variant attaining genomewide significance consistently in the three phenotype models except for the ATP2B1 gene variants. In general, the association signal with blood pressure was stronger in women than in men. Genes identified in GWASs are expected to open the way for prevention, early diagnosis, and personalized treatment of hypertension.

• Journal of the Korean Society of Environmental Restoration Technology
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• v.17 no.1
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• pp.81-90
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• 2014

A Fairy Pitta is a bird known to breed only in mainland China, Taiwan, Japan and Korea and is listed as Vulnerable in the IUCN Red List. We carried out a DNA analysis to contribute to conserve the genetic diversity of Fairy Pitta. 32 samples were collected at Jeju Island, the Korean Peninsula and Taiwan from 2004 to 2013 and DNA was extracted from them and several sequences were amplified-it through PCR. And then we performed the population genetic analysis. We found there was a transversion between nucleotide sequences at CO1 gene, while there was no changes at Cyt-b gene. And we confirmed the polymorphism from two genes was caused from genetic drift not from selection. Through this analysis, the group within the Peninsula was found bigger than other two groups based on the analysis of CO1 gene, and the group from Taiwan was found bigger than other two groups through the analysis of Cyt-b gene. The population genetic structure of mitochondria gene of three group was showing CO1 gene had 5 haplotypes and Cyt-b gene had 6 haplotypes. Haplotype 2 in CO1 gene was found in three group and many individuals of samples had this haplotype. Like CO1 gene, haplotype 2 in Cyt-b gene was found in three group and was included in plenty of individuals. Other haplotypes were not overlaped and broke off among the three groups. To prevent from the extinction of Fairy Pitta and to obtain the genetic diversity, we need to compare with other regional group such as Japan, China and perform additional research in the non-breeding area.

• Journal of Embryo Transfer
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• v.28 no.4
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• pp.355-360
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• 2013

Precise, rapid and simple methods for species identification in animals are among the most important techniques in the livestock industry and research fields including meat classification. In this study, polymerase chain reaction (PCR) based molecular identification using inter species polymorphisms were examined by PCR-restriction fragment length polymorphism (RFLP) analysis for mitochondrial DNA (mtDNA) cytochrome b (CYTB) gene sequences among four mammalian livestock animals (cattle, horse, goat and pig). The results from PCR-RFLP analysis using the AluI restriction enzyme were also provided for the species-specific band patterns among CYTB gene sequences in these four species. The AluI-digestion for CYTB genes provided interesting migration patterns differentially displayed according to each species. Cattle and horse had one AluI-recognition site at different nucleotide positions and their AluI-digested fragments showed different band patterns on the gels. Pig had two AluI-recognition sites within the amplified CYTB sequences and produced three bands on the gels. Goat had no AluI-recognition site and was located at the same position as the uncut PCR product. The results showed the species-specific band patterns on a single gel among the four livestock animal species by AluI-RFLP. In addition, the results from blind tests for the meat samples collected from providers without any records showed the identical information on the species recorded by observing their phenotypes before slaughter. The application of this PCR-RFLP method can be useful and provide rapid, simple, and clear information regarding species identification for various tissue samples originating from tested livestock species.

• Journal of Animal Science and Technology
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• v.47 no.1
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• pp.1-10
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• 2005

Intramuscular fat content(lMF) is considered as one of major economic traits in the pig breeding and industry. In general, high IMF results in better meat quality. Several approaches to detect quantitative trait 10ci( QTL) for IMF indicated a strong possibility of the existence of a QTL related to IMF between the microsatellite marker SW71 and SW1881 on SSC6q. Porcine FABP3 has been considered as a candidate gene affecting IMF due to its physiological roles and position on the pig genome. Two novel mutations, g.-114T> C and g.-158T>G were detected by duplicate sequencing of the porcine FABP3 promoter region. These two mutations were identified as absolute linkage disequilibrium. The g.-158T> G mutation was used for investigating relationships with growth and fat deposition traits. The GG genotype of the g.-158T> G polymorphism showed highly negative effects(P< 0.01) on body weights at 3 and 12 weeks of age, and a positive effect(P< 0.05) on IMF. However, backfat thickness(BF) and carcass fat(CF) content were not significantly associated with the genotype. The result indicates that the novel mutations, identified in this study, could be utilized as possible genetic markers to improve IMF, independent with BF.

• Journal of Animal Science and Technology
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• v.49 no.4
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• pp.429-436
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• 2007

The INRA124 is a bovine Y-chromosomal specific microsatellite locus that has been revealed a polymorphism. This locus has two alleles. The 132 bp allele is specific to cattle (humpless) of taurine origin and the 130 bp allele is specific to cattle (humped) of indicine origin. A total 822 males of 20 breeds or populations; North Eastern Asian breeds (Hanwoo, Korean Black cattle, Chik-so, CBK, Japanese Black cattle, Japanese Brown cattle, Yanbian cattle), Chinese yellow cattle (Luxi cattle, Nanyang cattle), European origin (Angus, Hereford, Charolais, Simmental, Brown swiss, Holstein, Limousin), African origin (Kavirondo zebu, White Fulani, crossbreed of N'Dama and Boran), Indian origin (Sahiwal) were characterized the distribution of alleles using INRA124 locus. Any individuals of European, Japanese origins and Hanwoo were not detected 130 bp allele, Bos indicus specific allele. Bos indicus breeds of Indian and African origins were not detected 132 bp allele, Bos taurus specific allele. CBK population that the crossbreed of Hanwoo, Brahman and Charolais showed the frequency of 0.19 in indicine specific allele. The breeds of Chinese mainland, Luxi and Nanyang cattle were detected 0.46 and 0.29 frequencies in indicine specific allele, respectively. These results suggest that Korean cattle, Hanwoo, had not been originated from a crossbred between Bos primigenius in Europe and Bos indicus in India.

• Journal of Animal Science and Technology
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• v.49 no.4
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• pp.437-442
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• 2007

The melanocortin-4 receptor(MC4R) is virtually expressed in all brain regions and plays an important role in energy homeostasis in mammals. MC4R has been intensively studied as a trait gene controlling economically important traits, such as growth and feed conversion, etc. Six hundreds and sixty Duroc pigs were genotyped for the MC4R locus and analyzed their relationships with breeding values for average daily gain(ADG), backfat thickness(BF), days to 90kg(D90) and feed conversion(FC). The estimated genotype frequencies for the all Duroc pigs were: 30.8%, 45.2%, 24.1% for AA, AB and BB genotypes, respectively. The mutant A allele was significantly associated with ADG, D90 and BF whereas no significant relationship was found with FC. The change of gene frequencies by generation was shown in both selected and culled groups. These results indicate that the MC4R polymorphism could be integrated in the present selection program to realize a marker-assisted selection for the growth traits of the Duroc population.

• Applied Biological Chemistry
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• v.47 no.2
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• pp.182-186
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• 2004

Morphological observation of roots and molecular technique were used to investigate the symbiotic relationships between arbuscular mycorrhizal (AM) fungi and ginseng roots. Korean ginseng, Panax ginseng, was collected from 8 sites in Korea. Colonization pattern of AM fungi in ginseng roots was determined as an Arum type under light microscopes. Nested PCR using AM fungal specific primers was employed to amplify a partial region on 18s rDNA of AM fungi from the root extracted mixed DNA. The amplified DNA was cloned and analyzed by random fragment length polymorphism (RFLP) with restriction enzymes, AluI, HinfI and AsuC21. One from each RFLP pattern was selected for sequencing. A total 16 clones were sequenced and identified as 2 species of AM fungi; Paraglomus brasilianum and Glomus spurcum. Paramglomus brasilianum was found from most of the ginseng roots, in this syudy suggesting that this species of AM fungi could have specific relationship with the ginseng root. Possible roles of AM fungal species in ginseng roots are discussed.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.35 no.6
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• pp.682-685
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• 2002

Cytogenetic analysis was conducted to obtaining informations for genetic improvement of spotty belly greenling (Hexagrmmos agrammus) and greenling (H. otakii) in aquaculture. Erythrocytes of spotty belly greenling were slightly larger than those of greenling (p<0.05). The nuclear volume of spotty belly greening erythrocytes averaged 15.14 $\pm$ 0.92 ${\mu}m^3$ while that of greening averaged 14.61 $\pm$ 0.15 $\mu$m^3 the difference was not significant (p>0.05). Consequently, genome size of spotty belly greenling was also slightly larger than those of greenling. DNA content per cell of spotty belly greenling and greenling were 2.15 pg and 2.10 pg, respectively. The modal chromosome number of both greenling species were same as 2n=48 and karyotypes were also identical as 2 metacentrics, 11 snbrnetacentrics and 11 acrocentric pairs $(W: 74), There was no evidence of polymorphism including aneuploidy or sex-related heterornorphisrn for all specimens examined. The nuclear organizer regions (NOR_s)$ were localized on a small acrocentric chromosome pair in both species, Spotty belly greenling showed large sizes of active rRNA coding regions in their chromosomes. However, greenling examined only small sizes of active rRNA coding regions with dimorphism.

• Korean Journal of Poultry Science
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• v.32 no.1
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• pp.29-34
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• 2005

This study was conducted to estimate the effects of genotype for chicken major histocompatibility complex (MHC) B-LB genes on economic traits. To detect polymorphism, 400 bp fragments of MHC B-LB genes were obtained and sequenced. After digestions using restriction enzyme Hea III, two restriction enzyme sites were observed. There were two mutations at position 427 and 651 those were decided as Type I and Type II, respectively. Using RFLP analyses, type I were genotyped to TT, TC and CC, and type II to MM, Mm and mm. The relatively higher TC genotype frequencies (0.8) of Type I and Mm genotype frequencies (0.88) of Type II were observed in Korean native chickens. The effects of the genotype on 150 days body weight trait were investigated by the associations of CC and Mm genotypes (P<0.05) in Korean native chickens. This result suggests that a significant association exists between the SNP and 150 days body weight.

• Korean Journal of Medicinal Crop Science
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• v.25 no.6
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• pp.361-366
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• 2017

Background: In the herbal medicinal industry, Angelica gigas Nakai, Angelica sinensis (Oliv.) Diels. and Angelica acutiloba (Siebold & Zucc.) Kitag. are often confused, because the roots of the three species can not be distinguished by their appearance. This confusion can cause serious side effects. In this study, we determined the origins of Angelica roots distributed in the Korean market using the simple sequence repeat (SSR) markers developed based on the A. gigas chloroplast DNA sequence. Methods and Results: We collected twenty seven A. gigas and three A. acutiloba samples from the Seoul, Daegu, and Cheongju herbal medicinal markets. Fifty sections of one collection were mixed and ground to make a powder, which was used for DNA extraction using the cetyl trimethylammonium bromide (CTAB) method. Chloroplast based SSR markers were applied to the DNA for the determination of the species. In addition, polymorphism was found in eight samples. The phylogenetic analysis showed that the A. gigas roots collected from herbal medicinal markets were clearly discriminated from A. sinensis and A. acutiloba even though they were grouped into four clusters. Conclusions: This study showed that chloroplast based SSR markers would help the discrimination of Angelica roots in the Korean herbal medicinal industry and the markers are useful to prevent confusion between Angelica roots.