• Title/Summary/Keyword: polymorphism

Search Result 3,192, Processing Time 0.027 seconds

Single Nucleotide Polymorphisms (SNPs) Discovery in GHSR Gene and Their Association Analysis with Economic Traits in Korean Native Chickens (GHSR 유전자 내 유전변이의 탐색과 한국재래계의 성장 및 산란 특성에 미치는 연관성 분석)

  • Choi, So-Young;Hong, Min-Wook;Yang, Song-Yi;Kim, Chong-Dae;Jeong, Dong Kee;Hong, Yeong Ho;Lee, Sung-Jin
    • Korean Journal of Poultry Science
    • /
    • v.43 no.4
    • /
    • pp.273-279
    • /
    • 2016
  • Recently, it was reported that certain polymorphisms in the growth hormone secretagogue receptor gene (GHSR) are associated with the growth of chickens. However, the correlation between GHSR polymorphisms and economic traits has not been investigated in Korean native chickens (KNCs). Therefore, the objective of this study was to confirm the suitability of the GHSR gene as a candidate for genomic selection and identify a genetic marker for KNCs. A total of 220 KNCs from six breeds raised at the National Institute of Animal Science were genotyped for the c.739+726 SNP in the GHSR gene using polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP), and the sequence for a subset of 30 birds was analyzed using direct sequencing. The association between the SNP genotypes and the economic traits of the KNCs was analyzed using the statistical package for the social science (SPSS) software program. The association analysis between the c.739+726T>C SNP and economic traits revealed that the SNP was significantly associated with body weight at 150 and 270 days (BW150 and BW270, respectively) in all KNCs (p<0.01), BW150 in KNC (Gary) (p<0.05), and egg production number in KNC (White, p<0.05). In addition, the SNPs discovered using direct sequencing (513A>G, 517A>T) had a significant effect on the body weight and egg production traits (p<0.05). In conclusion, these results might be useful as a basis for studies on the improvement of KNC breeds. Furthermore, these results suggest that the SNPs (c.739+726T>C, 513A>G, and 517A>T) located in the GHSR gene could be useful molecular genetic markers for KNCs.

Molecular Genetic Analysis of Behcet's Disease in Korean (한국인 베체트 환자의 분자유전학적 연구)

  • Park, Sang-Bum;Nam, Youn-Hyoung;Park, Su-Min;Lee, Sang-Hyun;Ahn, Young-Chang;Cho, Min-Ho;Kim, Jong-Gyu;Choi, Jae-Gu;Kim, Seong-Kyu;Jang, Won-Cheoul
    • Journal of the Korean Chemical Society
    • /
    • v.51 no.6
    • /
    • pp.536-542
    • /
    • 2007
  • Behcet's disease (BD) is a chronic inflammatory disorder, involving several organs. Inflammation in the disease is thought to be mediated by cytokines derived from T-helper type 1 (Th1) lymphocytes. Although the exact pathogenesis for BD is not completely understood, it has been suggested that the disease is triggered in genetically susceptible individuals by environmental factors, such as microbial agents. It is noted that multiple genes, including MHC (major histocompatibility complex) and non-MHC genes, are implicated in the pathogenesis of BD. This study tries to determine whether HLA-B51, IL-18, SLC11A1 and TNF-α polymorphisms are associated with susceptibility to Behcet's disease in Koreans. As a results, HLA-B51 was a genetic factor with the strongest association with BD. But it is still uncertain whether this HLA molecule is directly involved in the pathogenesis of BD. Although the IL-18 gene polymorphisms were not associated with a susceptibility to BD in the Korean population, the patients carrying the GG genotype at position 137 had a higher risk of developing the ocular lesions. This study suggests that the allele 3 and the genotype allele 3 / allele 3 of 5'-promoter (GT)n polymorphism in the SLC11A1 gene may have a protective effect for the development of BD in the Korean population. There were no evidences for genetic association conferred by the TNF-α gene with respect to susceptibility to BD.

Current Status of Cattle Genome Sequencing and Analysis using Next Generation Sequencing (차세대유전체해독 기법을 이용한 소 유전체 해독 연구현황)

  • Choi, Jung-Woo;Chai, Han-Ha;Yu, Dayeong;Lee, Kyung-Tai;Cho, Yong-Min;Lim, Dajeong
    • Journal of Life Science
    • /
    • v.25 no.3
    • /
    • pp.349-356
    • /
    • 2015
  • Thanks to recent advances in next-generation sequencing (NGS) technology, diverse livestock species have been dissected at the genome-wide sequence level. As for cattle, there are currently four Korean indigenous breeds registered with the Domestic Animal Diversity Information System of the Food and Agricultural Organization of the United Nations: Hanwoo, Chikso, Heugu, and Jeju Heugu. These native genetic resources were recently whole-genome resequenced using various NGS technologies, providing enormous single nucleotide polymorphism information across the genomes. The NGS application further provided biological such that Korean native cattle are genetically distant from some cattle breeds of European origins. In addition, the NGS technology was successfully applied to detect structural variations, particularly copy number variations that were usually difficult to identify at the genome-wide level with reasonable accuracy. Despite the success, those recent studies also showed an inherent limitation in sequencing only a representative individual of each breed. To elucidate the biological implications of the sequenced data, further confirmatory studies should be followed by sequencing or validating the population of each breed. Because NGS sequencing prices have consistently dropped, various population genomic theories can now be applied to the sequencing data obtained from the population of each breed of interest. There are still few such population studies available for the Korean native cattle breeds, but this situation will soon be improved with the recent initiative for NGS sequencing of diverse native livestock resources, including the Korean native cattle breeds.

Analysis of Genetic Diversity and Relationships of Korean Native Goat Populations by Microsatellite Markers (MS 표지를 이용한 한국재래염소 집단의 유전적 다양성 및 유연관계 분석)

  • Suh, Sangwon;Byun, Mijeong;Kim, Young-Sin;Kim, Myung-Jick;Choi, Seong-Bok;Ko, Yeoung-Gyu;Kim, Dong-Hun;Lim, Hyun-Tae;Kim, Jae-Hwan
    • Journal of Life Science
    • /
    • v.22 no.11
    • /
    • pp.1493-1499
    • /
    • 2012
  • The level of genetic variation and relationships in three native Korean goat populations (Dangjin, Jangsu, and Tongyeong) as well as the populations of a farm were analyzed, based on 30 microsatellite markers. A total of 277 distinct alleles were observed across the four goat populations, and 102 (36.8%) of these alleles were unique to only one population. The mean observed heterozygosity and polymorphism information content were calculated as 0.461~0.651 and 0.462~0.679, respectively. In the NJ tree constructed based on Nei's $D_A$ genetic distance, the four populations represented four distinct groups. However, the genetic distances between each Korean native goat population and the farm population were two times those among the three native Korean breeds. The genetic structure within the three Korean native goat populations was also investigated. Cluster analysis, using the STRUCTURE software, suggested three clusters. The molecular information of genetic diversity and relationships in this study will be useful for the evaluation, conservation, and utilization of native Korean goat breeds as genetic resources.

Genotypic and Phenotypic Characteristics of Staphylococcus aureus Isolates from Lettuces and Raw Milk (상추와 원유에서 분리한 황색 포도상구균의 유전형 및 표현형 특징)

  • Jung, Hye-Jin;Cho, Joon-Il;Park, Sung-Hee;Ha, Sang-Do;Lee, Kyu-Ho;Kim, Cheol-Ho;Song, Eun-Seop;Chung, Duck-Hwa;Kim, Min-Gon;Kim, Kwang-Yup;Kim, Keun-Sung
    • Korean Journal of Food Science and Technology
    • /
    • v.37 no.1
    • /
    • pp.134-141
    • /
    • 2005
  • To characterize genotypic and phenotypic traits of Staphylococcus aureus isolates (n = 86) from lettuces and raw milk, major virulence-associated genes and antibiotic susceptibility were detected using PCR-based methods and disk diffusion method, respectively. All isolates possessed coagulase gene and showed five polymorphism types [500 bp (2.4%), 580 bp (17.4%), 660 bp (61.6%), 740 bp (17.4%), and 820 bp (1.2%)] due to variable numbers of tandem repeats present within the gene. Two or three different loci of hemolysin gene family were dominant in isolates, 47 of which (55%) possessed combination of hla/hld/hlg-2 genes as the most prevalent types. Among enterotoxin-encoding genes, sea was detected from 32 isolates (37%), sed from 1 isolate (1%), and sea and sed genes were co-detected from 4 isolates (5%), whereas seb, sec, and tsst-1 genes were not detected. All isolates were susceptible to ciprofloxacin, trimethoprim/sulfamethoxazole, oxacillin, and vancomycin, 85 isolates (99%) to penicillin G, 54 isolates (63%) to chloramphenicol, 51 isolates (59%) to erythromycin, and 7 isolates (8%) to clindamycin. Among resistant isolates, seven displayed multiantibiotic-resistance against two different antibiotics.

Polymorphisms of GSTM1 and CYP1A1, and Susceptibility to Primary Lung Cancer in Korean Males (한국인 남성에서 GSTM1과 CYP1A1 유전자 다형성과 원발성폐암의 유전적 감수성)

  • Bae, Nack-Cheon;Lee, Su-Yeon;Chae, Po-Hee;Kang, Kyung-Hee;Kim, Kyung-Rock;Cha, Seung-Ick;Chae, Sang-Chul;Kim, Chang-Ho;Jung, Tae-Hoon;Park, Jae-Yong
    • Tuberculosis and Respiratory Diseases
    • /
    • v.50 no.5
    • /
    • pp.568-578
    • /
    • 2001
  • Background : Lung cancer is frequently cited as an example of a disease caused solely by exposure to environmental carcinogens. However, there is a growing realization that the genetic constitution is also important in determining individual's susceptibility to lung cancer. This genetic susceptibility may result from functional polymorphims of the genes involved in carcinogen metabolism. In this study, the association between GSTM1 and CYP1A1 polymorphisms and the lung cancer risk in Korean males was investigated. Materials and Method : The study population consisted of 153 male lung cancer patients and 143 healthy male controls. The GSTM1 and CYP1A1 genotypes were determined by multiplex PCR and PCR-RFLP analysis. Result : There were no significant differences in the frequency of the GSTM1 null genotype between the cases and the controls. When the cases were categorized by their histologic type, the frequency of the GSTM1 null genotype in the small cell carcinoma group was higher than those of the controls(67.2% vs 55.9%), but the difference was not statistically significant(OR=1.772 ; 95% CI=0.723-4.340). The distribution of the CYP1A1 MspI genotypes among the cases were similar to those among the controls. When the cases were grouped by their histologic type, the ml/m1, ml/m2, m2/m2 genotypes frequencies among the small cell carcinomas(23.0%, 38.5%, and 38.5%, respectively) were significantly different from those of the controls(36.4%, 46.2%, and 7.4%, respectively, p<0.05). When the m1/m1 genotype was used as a reference, the ml/m2 and m2/m2 genotypes were associated with an increased risk for small cell lung cancer(ml/m2 genotype : OR=1.337, 95% CI=0.453-3.947 ; m2/m2 genotype : OR=3.374, 95% CI=1.092-10.421). Conclusion : These results suggest that the GSTM1 and CYP1A1 genotypes may be a genetic determinant of the risk for lung cancer, particlulary small cell carcinoma. Further investigation is needed to confirm these results.

  • PDF

Sex Pheromone Trapping of Spodoptera frugiperda (Noctuidae: Lepidoptera) in Korea and the Distribution of Intraspecies-specific Single Nucleotide Polymorphisms in the Cytochrome c Oxidase Subunit 1 (CO1) (성페로몬을 이용한 열대거세미나방 포획과 시토크롬 옥시다제 1(CO1)에서 종내 변이군 특이적 단일염기다형성 분포)

  • Seo, Bo Yoon;Jung, Jin Kyo;Lee, Gwan-Seok;Yang, Chang Yeol;Cho, Jumrae;Kim, Yang Pyo
    • Korean journal of applied entomology
    • /
    • v.59 no.3
    • /
    • pp.217-231
    • /
    • 2020
  • In 2019, the sex pheromones of Spodoptera frugiperda were used to examine moth trapping in cornfields in Gochang, Korea. Four types of traps were prepared, two funnel-types and two delta-types, each baited with 300 or 1000 ㎍ of a two-component (2C) blend of synthetic sex pheromones [100% (Z)-9-tetradecenyl acetate (Z9-14Ac) and 2% (Z)-7-dodecenyl acetate (Z7-12Ac)]. The greatest number of S. frugiperda were captured in the 300 ㎍ funnel-type trap (first catch: August 6). Large numbers of Mythimna loreyi (a non-target) were also caught in the funnel-type traps. Two wing-type traps were baited with 1000 ㎍ of the 2C blend or a four-component (4C) blend [100% (Z)-9-tetradecenyl acetate, 8% (Z)-11-hexadecenyl acetate (Z11-16Ac), 2% (Z)-7-dodecenyl acetate, and 1% (Z)-9-dodecenyl acetate (Z9-12Ac)] and the capture efficiency was assessed. Low numbers of S. frugiperda were captured regardless of the blend, and more M. loreyi were captured using the 4C blend. The two intraspecies groups clustered separately in a phylogenetic tree constructed using partial sequences (1004 bp) of cytochrome c oxidase subunit 1 (CO1). Of the 70 S. frugiperda captured in the pheromone traps, 66 belonged to CO1-RS (CO1 rice-strain) and 4 to CO1-CS (CO1 corn-strain). Twelve consistent single nucleotide polymorphisms (SNPs) were identified in CO1 between the CO1-RS and CO1-CS groups of S. frugiperda. Of the 73 S. frugiperda, 4 had the same SNP pattern as the CO1-CS group (including the corn strain) and 69 had the same SNP pattern as the CO1-RS group (including the rice strain).

Identification and Characterization of Wild Yeasts Isolated from Korean Domestic Grape Varieties (국산 포도로부터 분리한 야생효모의 동정 및 특성)

  • Choi, Sang-Hoon;Hong, Young-Ah;Choi, Yoon-Jung;Park, Heui-Dong
    • Food Science and Preservation
    • /
    • v.18 no.4
    • /
    • pp.604-611
    • /
    • 2011
  • Several wild yeasts were isolated from Korean grape varieties before and during spontaneous fermentation. Among them, four strains were isolated based on the alcohol content and flavor production in wine after fermentation of apple juice. In this study, the four yeast strains were identified and characterized. PCR-restriction fragment length polymorphism analysis of ITS I-5.8S-ITS II region with restriction endonuclease Hae III and Hinf I resulted in that all the strains showed a typical pattern of Saccharomyces cerevisiae. Pulse field gel electrophoresis showed three different chromosome patterns with a same band between strains SS89 and SS812. When ITS I-5.8S-ITS II sequences of the four strains were compared with one another, they were similar to those of Saccharomyces cerevisiae CBS 4054 type strain. Identity of the sequences was higher than 97% with those of the type strain. Phylogenetic analysis showed based on the sequences showed they were genetically closed to the type strain. The four identified strains were tested in a medium containing 200 ppm potassium metabisulfite, and the MM10 and WW108 inhibition rates resulted at up to 24 h. The four strains were tested at an incubation temperature of $30^{\circ}C$. The 30% sugar concentration in the medium (w/v) showed the highest growth in 36 h, especially in the case of SS89, which was close to growth 40. The four strains were tested in an 8% ethanol medium (v/v). Alcohol tolerance was initially kept in the incubation process. The strains began to adapt, however, to the exceeded resistance. The four strains showed the lowest inhibition rate at 24 h.

Varietal Resistance of Rice to the BPH Biotypes 1, 2, 3 and their Hybrid Progenies, Nilaparvata lugens $St{\aa}l$ (I) (벼멸구 생태형(生態型)의 교잡종(交雜種)에 대(對)한 수도품종(水稻品種)의 저항성(抵抗性)에 관(關)하여(I))

  • Kim, Jeong-Wha;Youn, Sang-Won
    • Korean journal of applied entomology
    • /
    • v.26 no.2 s.71
    • /
    • pp.63-69
    • /
    • 1987
  • This study was performed to evaluate the resistance of three different rice cultivars to the BPH biotypes 1, 2, 3 and their hybrid progenies, Nilaparvata lugens STAL. The rice cultivars tested were Chucheongbyeo, Cheongcheongbyeo and Milyang 63. The following characteristics of hybrid progenies were compared with these of their parents: Seedling response, Host preference, feeding amount, Esterase polymorphism of the brown rice. According to the responses of rice seedlings to the three BPH biotypes and their crosses progenies nymph, Chucheongbyeo was shown highly susceptible to their nymphs. The Cheongcheongbyeo was susceptible to the biotypes 2 and the Milyang 63 was susceptible to the biotype 3. The Cheongchengbyeo and the Milyang 63 were moderate to the biotypes 2(female)${\times}$3(male) and 3(female)${\times}$2(male). The preference in feeding and oviposition of three BPH biotypes and their hybrid progenies to Chucheongbyeo were shown higher than to another cultivars. The two preference were not only shown highly in Cheongcheongbyeo by the biotypes 2,2(female)${\times}$3(male) and 3(female)${\times}$2(male) but also in Milyang 63 by the biotypes 3,2(female)${\times}$3(male) and 3(femlae)${\times}$2(male). The feeding amount of female adult was much on three BPH biotypes and their hybrid progenies in Chucheongbyeo and on the biotypes 2 and 3(female)${\times}$2(male) in Cheongcheongbyeo, On the biotypes 3 and 3(female)${\times}$2(male) in Milyang 63 were as same as the above. The esterase bands of Est ${\alpha}-1,\;{\beta}-4,\;{\beta}-5\;and\;{\beta}-I$ were detected on brown rice of all the tested cultivars. The bands of Est ${\beta}-2\;and\;{\alpha}-I$ were detected on Cheongcheongbyeo (Bph 1 gene for resistance) and Milyang 63 (bph 2 gene for resistance). The Est ${\beta}-3\;and\;{\beta}-1$ of esterase bands were detected on Chucheongbyeo.

  • PDF

Association of β-Catenin with Fat Accumulation in 3T3-L1 Adipocytes and Human Population (β-catenin 유전자의 3T3-L1 지방세포 및 인체에서의 지방축적 연관성 연구)

  • Bae, Sung-Min;Lee, Hae-Yong;Chae, Soo-Ahn;Oh, Dong-Jin;Park, Suk-Won;Yoon, Yoo-Sik
    • Journal of Life Science
    • /
    • v.21 no.9
    • /
    • pp.1301-1309
    • /
    • 2011
  • The major function of adipocytes is to store fat in the form of triglycerides. One of the signaling pathways known to affect adipogenesis, i.e. fat formation, is the WNT/${\beta}$-catenin pathway which inhibits the expression and activity of key regulators of adipogenesis. The purpose of this research is to find genes among the WNT/${\beta}$-catenin pathway which regulate adipogenesis by using small interfering (si) RNA and to find the association of single nucleotide polymorphisms (SNPs) of the gene with serum triglyceride levels in the human population. To elucidate the effects of ${\beta}$-catenin siRNA on adipogenesis key factors, PPAR${\gamma}$ and C/EBP${\alpha}$, we performed real-time PCR and western blotting experiments for the analyses of mRNA and protein levels. It was found that the siRNA-mediated knockdown of ${\beta}$-catenin upregulates adipogenesis key factors. However, upstream regulators of the WNT/${\beta}$-catenin pathway, such as DVL2 and LRP6, had no significant effects compared to ${\beta}$-catenin. These results indicate that ${\beta}$-catenin is a candidate gene for human fat accumulation. In general, serum triglyceride level is a good indicator of fat accumulation in humans. According to statistical analyses of the association between serum triglyceride level and SNPs of ${\beta}$-catenin, -10,288 C>T SNP (rs7630377) in the promoter region was significantly associated with serum triglyceride levels (p<0.05) in 290 Korean subjects. On the other hand, serum cholesterol levels were not significantly associated with SNPs of the ${\beta}$-catenin gene. The results of this study showed that ${\beta}$-catenin is associated with fat accumulation both in vitro and in the human population.