• Title/Summary/Keyword: polymorphism

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Polymorphisms and Allele Distribution of Novel Indel Markers in Jeju Black Cattle, Hanwoo and Imported Cattle Breeds (제주흑우, 한우 및 수입 소 품종에서 새로운 indel 마커의 다형성과 대립인자 분포)

  • Han, Sang-Hyun;Kim, Jae-Hwan;Cho, In-Cheol;Cho, Sang-Rae;Cho, Won-Mo;Kim, Sang-Geum;Kim, Yoo-Kyung;Kang, Yong-Jun;Park, Yong-Sang;Kim, Young-Hoon;Park, Se-Phil;Kim, Eun-Young;Lee, Sung-Soo;Ko, Moon-Suck
    • Journal of Life Science
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    • v.22 no.12
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    • pp.1644-1650
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    • 2012
  • The aim of this study was to screen the polymorphisms and distribution of each genotype of insertion/ deletion (indel) markers which were found in a preliminary comparative study of bovine genomic sequence databases. Comparative bioinformatic analyses were first performed between the nucleotide sequences of Bovine Genome Project and those of expressed sequence tag (EST) database, and a total of fifty-one species of indel markers were screened. Of these, forty-two indel markers were evaluated, and nine informative indel markers were ultimately selected for population analysis. Nucleotide sequences of each marker were re-sequenced and their polymorphic patterns were typed in six cattle breeds: Holstein, Angus, Charolais, Hereford, and two Korean native cattle breeds (Hanwoo and Jeju Black cattle). Cattle breeds tested in this study showed polymorphic patterns in eight indel markers but not in the Indel-15 marker in Charolais and Holstein. The results of analysis for Jeju Black cattle (JBC) population indicated an observed heterozygosity (Ho) that was highest in HW_G1 (0.600) and the lowest in Indel_29 (0.274). The PIC value was the highest in HW_G4 (0.373) and lowest in Indel_6 (0.305). These polymorphic indel markers will be useful in supplying genetic information for parentage tests and traceability and to develop a molecular breeding system for improvement of animal production in cattle breeds as well as in the JBC population.

Genetic Variations in Geographic Venus Clam(Gomphina aequilatera, Sowerby) Populations from Samcheok and Wonsan (삼척과 원산의 지리적 민들조개(Gomphina aequilatera, Sowerby) 집단의 유전적 변이)

  • Kim, Jong-Rae;Jung, Chang-Ho;Kim, Yong-Ho;Yoon, Jong-Man
    • Development and Reproduction
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    • v.10 no.4
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    • pp.227-238
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    • 2006
  • Genomic DNAs(gDNAs) were isolated from the venus clam(Gomphina aequilatera) from Samcheok(venus clam from Samcheok; VCS) and Wonsan(venus clam from Wonsan; VCW) located in the East Sea of the Korean Peninsula. The amplified products were generated by agarose gel electrophoresis(AGE) with oligonucleotides primer, detected by staining with ethidium bromide and viewed by ultraviolet ray. The seven arbitrarily selected primers BION-21, BION-23, BION-25, BION-27, BION-29, BION-31 and BION-33 generated the shared loci, polymorphic, and specific loci, with the molecular sizes ranging from 150 bp to 2,400 bp. In this study, 147 polymorphic loci(147/954 loci, 15.41%) in VCS population and 274(274/996 loci, 27.51%) in VCW population were generated with seven primers. These results suggest the genetic variation in VCW population is higher than in VCS population. Especially, the 700 bp bands generated by the primer BION-21 were identified commonly in two Gomphina populations, which identified populations and/or species. This specific primer was found to be useful in the identification of individuals and/or population, resulting from the different DNA polymorphism among individuals/species/population. Two Gomphina populations between the individual SAMCHEOK no. 03 and WONSAN no. 22 showed the longest genetic distance(0.696) in comparison with other individuals used. The complete linkage cluster analysis indicating three genetic groupings and dendrogram revealed close relationships among individual identities within two geographical populations of venus clam(G. aequilatera) from the Samcheok and Wonsan. The intra-species classification and clustering analyses inferred from molecular markers supported the traditional taxonomy of the species based on morphological characters such as shell size, shape and color. Accordingly, as mentioned above, RAPD analysis showed that VCS population was more or less separated from VCW population.

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Effects of lymphocyte DNA damage levels in Korean plant food groups and Korean diet regarding to glutathione S-transferase M1 and T1 polymorphisms (건강한 성인의 glutathione S-transferase M1과 T1 유전자 다형성에 따른 한식에서의 식물성 식품군과 한식의 DNA 손상 감소 효과)

  • Kim, Hyun-A;Lee, Min-Young;Kang, Myung-Hee
    • Journal of Nutrition and Health
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    • v.50 no.1
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    • pp.10-24
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    • 2017
  • Purpose: GST (glutathione S-transferase) M1 and T1 gene polymorphisms are known to affect antioxidant levels. This study was carried out to evaluate genetic susceptibility by measuring the effect of DNA damage reduction in the Korean diet by vegetable food according to GST gene polymorphisms using the ex vivo method with human lymphocytes. Methods: Vegetable foods in the Korean diet based the results of the KNHANES V-2 (2011) were classified into 10 food groups. A total of 84 foods, which constituted more than 1% of the total intake in each food group, were finally designated as a vegetable food in the Korean diet. The Korean diet applied in this study is the standard one-week meals for Koreans (2,000 Kcal/day) suggested by the 2010 Dietary Reference Intakes for Koreans. Ex vivo DNA damage in human lymphocytes was assessed using comet assay. Results: In the Korean food group, the DNA damage protective effect of GSTM1 and GSTT1 was found to be greater in mutant type and wild-type, respectively. and the DNA damage protective effect according to the combined genotype of GSTM1 and GSTT1 was different depending on the food group. On the other hand, in Korean Diet, the DNA damage protective effect appeared to be larger in GSTM1 wild-type than in mutant type and was found to not be affected by GSTT1 genotype. Conclusion: These results can be used as basic data to demonstrate the superiority of the antioxidant function of Korean dietary patterns and food groups. Furthermore, it may be a starting point to begin research on customized antioxidant nutrition according to individual genes.

Effects of interaction between SLC12A3 polymorphism, salt-sensitive gene, and sodium intake on risk of child obesity (소금민감성 SLC12A3 유전자 다형성에 따른 나트륨섭취가 소아비만에 미치는 영향)

  • Jung, Joohyun;Lee, Myoungsook
    • Journal of Nutrition and Health
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    • v.50 no.1
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    • pp.32-40
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    • 2017
  • Purpose: Obesogenic environments in children, in particular excessive intake of sodium, generate hypertension, which is a major risk factor for chronic diseases. Methods: In all, 725 children, 379 boys and 373 girls, aged 8~9 years were recruited from seven elementary schools in Kuro-ku, Seoul. To evaluate whether or not obesity risk was modulated by salt-sensitive genes, Solute Carrier Familiy 12 member 3 (SLC12A3) was used as the target. After children were assigned into obese (BMI > 85 percentile) or non-obese groups, anthropometry, blood biochemistry, and dietary intakes were measured according to the genotypes GG (wild) or GA+AA (hetero+mutant). Results: Without gender differences, high TG and low HDLc were detected in the obese group compared to the non-obese group. Regardless of obesity, weight gain and blood pressure (BP) increased in the SLC12A3 GA+AA genotype rather than in the GG type. HDLc was associated with obesity risk without genotype difference. Odd ratios for risk of obesity were 15.57 (95% CI 2.192~110.654), 22.84 (95% CI 1.565~333.469), and 9.32 (95%CI 1.262~68.817) in boys and girls with GA+AA genotypes as sodium intake increased above 4,000 mg/day. Dietary calcium, sodium, folate, and vit C were associated with obesity risk according to gender or genotype differences. Since high folate intake reduced obesity risk in only boys with GG type. Risk for overweight and obesity increased in boys with GA+AA genotypes and dietary habits with high sodium and cholesterol and low folate. Conclusion: The A allele of SLC12A3 rs11643718 was sensitive to development of obesity in children as sodium intake increased.

Genetic Diversity and Phylogenetic Relationship in Korean Strains of Lentinus lepideus Based on PCR Polymorphism (PCR 다형성 분석에 의한 한국산 잣버섯의 유전적 다양성 및 유연관계)

  • Lee, Jae-Seong;Cho, Hae-Jin;Yoon, Ki-Nam;Alam, Nuhu;Lee, Kyung-Lim;Shim, Mi-Ja;Lee, Min-Woong;Lee, Yun-Hae;Jang, Myoung-Jun;Ju, Young-Chul;Cheong, Jong-Chun;Shin, Pyung-Gyun;Yoo, Young-Bok;Lee, U-Youn;Lee, Tae-Soo
    • The Korean Journal of Mycology
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    • v.38 no.2
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    • pp.105-111
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    • 2010
  • Lentinus lepideus, known as train wrecker fungus, has been used for nutritional and medicinal purposes. Recently, commercial cultivation technique and a new cultivar of the mushroom were developed. To investigate the genetic diversity and phylogenetic relationship for identifying the mushroom strains and cultivar, one commercial and 13 strains of Lentinus lepideus from different geographical regions of Korea were analyzed by ITS regions of rDNA and RAPD of genomic DNA. Three strains of Lentinus edodes were also used for the analysis. The size of the ITS1 and ITS2 regions of rDNA from the different strains varied from 173 to 179 bp and 203 to 205 bp, respectively. The sequence of ITS1 was more variable than that of ITS2, while the 5.8S sequences were identical with 156 base pairs. A phylogenetic tree based on the ITS region sequences indicated that selected strains could be classified into four clusters, while 3 strains of L. edodes was divided into a new cluster. Ten primers out of 20 arbitrary primers used in the RAPD-PCR efficiently amplified the genomic DNA. The numbers of amplified DNA bands varied with the primers and strains, with polymorphic DNA fragments in the range from 0.2 to 2.6 kb. The results showed that phylogenetic relationship among Korean strains of Lentnus lepideus is high, but genetic diversity is low.

Identification and Characterization of Three Isolates of Cucumber mosaic virus Isolated from Weed Hosts (잡초에서 분리한 3종 Cucumber mosaic virus의 동정과 특성)

  • Lee, Hyeok-Geun;Kim, Sung-Ryul;Jeon, Yong-Woon;Kwon, Soon-Bae;Ryu, Ki-Hyun;Choi, Jang-Kyung
    • Research in Plant Disease
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    • v.14 no.1
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    • pp.15-20
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    • 2008
  • Three isolates of Cucumber mosaic virus (CMV) were isolated from weed hosts showing typical mosaic symptoms, and some properties of the viruses were investigated. CMV isolates, designated as Is-CMV, Jd-CMV and Pla-CMV from Isodon inflexus, Jeffersonia dubia and Phryma leptostachya var. asiatica, respectively, were identified and characterized by biological reaction in several host plants, serological property, dsRNA analysis, reverse transcription-polymerase chain reaction (RT-PCR), restriction fragment-length polymorphism (RFLP). All isolates systemically infected in Nicotiana benthamiana, Cucurbita pepo cv. Black beauty and Cucumis sativus, and did not reveal any differences in these host plants between the isolates. However, remarkable difference in the symptoms was found between the CMVs in Capsicum annuum. Is-CMV induced an asymptomatic symptoms, while Jd-CMV and Pla-CMV produced severe mosaic symptoms in C. annuum plants. In dsRNA analysis, all isolates revealed four major bands with estimated molecular size of 3.4, 3.2, 2.1 and 1.0 kbp. The cDNAs of coat protein gene of the isolates were amplified by RT-PCR using a genus-specific single pair primers that designed to amplify a DNA fragment of approximately ranging from 938 to 966 bp. By restriction mapping analysis using RFLP of the RT-PCR products as well as by serological properties of gel diffusion test, the CMV isolates belong to a typical members of CMV subgroup IA. This is the first report on the occurrence of CMV in the three weed hosts.

Estimation of Linkage Disequilibrium and Effective Population Size using Whole Genome Single Nucleotide Polymorphisms in Hanwoo (한우에서 전장의 유전체 정보를 활용한 연관불평형 및 유효집단크기 추정에 관한 연구)

  • Cho, Chung-Il;Lee, Joon-Ho;Lee, Deuk-Hwan
    • Journal of Life Science
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    • v.22 no.3
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    • pp.366-372
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    • 2012
  • This study was conducted to estimate the extent of linkage disequilibrium (LD) and effective population size using whole genomic single nucleotide polymorphisms (SNP) genotyped by DNA chip in Hanwoo. Using the blood samples of 35 young bulls born from 2005 to 2008 and their progenies (N=253) in a Hanwoo nucleus population collected from Hanwoo Improvement Center, 51,582 SNPs were genotyped using Bovine SNP50 chips. A total of 40,851 SNPs were used in this study after elimination of SNPs with a missing genotyping rate of over 10 percent and monomorphic SNPs (10,730 SNPs). The total autosomal genome length, measured as the sum of the longest syntenic pairs of SNPs by chromosome, was 2,541.6 Mb (Mega base pairs). The average distances of all adjacent pairs by each BTA ranged from 0.55 to 0.74 cM. Decay of LD showed an exponential trend with physical distance. The means of LD ($r^2$) among syntenic SNP pairs were 0.136 at a range of 0-0.1 Mb in physical distance and 0.06 at a range of 0.1-0.2 Mb. When these results were used for Luo's formula, about 2,000 phenotypic records were found to be required to achieve power > 0.9 to detect 5% QTL in the population of Hanwoo. As a result of estimating effective population size by generation in Hanwoo, the estimated effective population size for the current status was 84 heads and the estimate of effective population size for 50 generations of ancestors was 1,150 heads. The average decreasing rates of effective population size by generation were 9.0% at about five generations and 17.3% at the current generation. The main cause of the rapid decrease in effective population size was considered to be the intensive use of a few prominent sires since the application of artificial insemination technology in Korea. To increase and/or sustain the effective population size, the selection of various proven bulls and mating systems that consider genetic diversity are needed.

Bioinformatic Analysis of the Canine Genes Related to Phenotypes for the Working Dogs (특수 목적견으로서의 품성 및 능력 관련 유전자들에 관한 생물정보학적 분석)

  • Kwon, Yun-Jeong;Eo, Jungwoo;Choi, Bong-Hwan;Choi, Yuri;Gim, Jeong-An;Kim, Dahee;Kim, Tae-Hun;Seong, Hwan-Hoo;Kim, Heui-Soo
    • Journal of Life Science
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    • v.23 no.11
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    • pp.1325-1335
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    • 2013
  • Working dogs, such as rescue dogs, military watch dogs, guide dogs, and search dogs, are selected by in-training examination of desired traits, including concentration, possessiveness, and boldness. In recent years, genetic information has been considered to be an important factor for the outstanding abilities of working dogs. To characterize the molecular features of the canine genes related to phenotypes for working dogs, we investigated the 24 previously reported genes (AR, BDNF, DAT, DBH, DGCR2, DRD4, MAOA, MAOB, SLC6A4, TH, TPH2, IFT88, KCNA3, TBR2, TRKB, ACE, GNB1, MSTN, PLCL1, SLC25A22, WFIKKN2, APOE, GRIN2B, and PIK3CG) that were categorized to personality, olfactory sense, and athletic/learning ability. We analyzed the chromosomal location, gene-gene interactions, Gene Ontology, and expression patterns of these genes using bioinformatic tools. In addition, variable numbers of tandem repeat (VNTR) or microsatellite (MS) polymorphism in the AR, MAOA, MAOB, TH, DAT, DBH, and DRD4 genes were reviewed. Taken together, we suggest that the genetic background of the canine genes associated with various working dog behaviors and skill performance attributes could be used for proper selection of superior working dogs.

SNP Marker Development for Purity Test of Oriental Melon and Melon (멜론 및 참외 순도 검정을 위한 SNP 마커 개발 및 F1 종자 순도 검정)

  • An, Song-Ji;Kwon, Jin-Kyung;Yang, Hee-Bum;Choi, Hye-Jeong;Jeong, Hee-Jin;Kim, Yong-Jae;Choi, Gyung-Ja;Kang, Byoung-Cheorl
    • Korean Journal of Breeding Science
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    • v.42 no.4
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    • pp.397-406
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    • 2010
  • Field screening method has been commonly used for purity test of $F_1$ hybrid seeds in melon and oriental melon. However, as this method takes a lot of time and cost, molecular marker-based purity test is necessary. To develop molecular markers for purity test, thirty pairs of SNP (single nucleotide polymorphism) primers were obtained from melon EST sequences, and 10 polymorphic markers showing HRM (high resolution melting) polymorphisms between parents of two melon cultivars and one oriental melon cultivar were selected. Blind tests were performed to validate usefulness of the selected markers for purity test. Blind test results showed that HRM genotypes were matched with the expected identity of individual sample, $F_1$ hybrid, male or female parents. Three HRM-based SNP markers were converted to CAPS markers for general use which is favor to breeders. We expect that SNP markers developed in this study will be useful for purity test of $F_1$ hybrid seeds in melon and oriental melon.

Imputation Accuracy from 770K SNP Chips to Next Generation Sequencing Data in a Hanwoo (Korean Native Cattle) Population using Minimac3 and Beagle (Minimac3와 Beagle 프로그램을 이용한 한우 770K chip 데이터에서 차세대 염기서열분석 데이터로의 결측치 대치의 정확도 분석)

  • An, Na-Rae;Son, Ju-Hwan;Park, Jong-Eun;Chai, Han-Ha;Jang, Gul-Won;Lim, Dajeong
    • Journal of Life Science
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    • v.28 no.11
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    • pp.1255-1261
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    • 2018
  • Whole genome analysis have been made possible with the development of DNA sequencing technologies and discovery of many single nucleotide polymorphisms (SNPs). Large number of SNP can be analyzed with SNP chips, since SNPs of human as well as livestock genomes are available. Among the various missing nucleotide imputation programs, Minimac3 software is suggested to be highly accurate, with a simplified workflow and relatively fast. In the present study, we used Minimac3 program to perform genomic missing value substitution 1,226 animals 770K SNP chip and imputing missing SNPs with next generation sequencing data from 311 animals. The accuracy on each chromosome was about 94~96%, and individual sample accuracy was about 92~98%. After imputation of the genotypes, SNPs with R Square ($R^2$) values for three conditions were 0.4, 0.6, and 0.8 and the percentage of SNPs were 91%, 84%, and 70% respectively. The differences in the Minor Allele Frequency gave $R^2$ values corresponding to seven intervals (0, 0.025), (0.025, 0.05), (0.05, 0.1), (0.1, 0.2), (0.2, 0.3). (0.3, 0.4) and (0.4, 0.5) of 64~88%. The total analysis time was about 12 hr. In future SNP chip studies, as the size and complexity of the genomic datasets increase, we expect that genomic imputation using Minimac3 can improve the reliability of chip data for Hanwoo discrimination.