• 제목/요약/키워드: SNP Marker

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FABP4 유전자의 단일염기 다형성에 관한 연구 (Investigation of Single Nucleotide Polymorphisms in the Adipocyte Fatty-Acid Binding Protein (FABP4) Gene)

  • 김상욱;정지혜;김관석;이철구;김종주;최봉환;김태헌;송기덕;조병욱
    • 생명과학회지
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    • 제17권11호
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    • pp.1505-1510
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    • 2007
  • 본 연구는 돼지 4번 염색체에서 FAT1 좌위의 후보유전자인 Adipocyte Fatty-Acid 결합단백질 (FABP4) 유전자에서 8개의 Single Nucleotide Polymorphisms (SNPs)를 발견하였다. Duroc, Landrace, Berkshire, Yorkshire를 기초 축으로 이용한 800두에 대해 FABP4 유전자의 단일염기 분석과 PCR-RFLP를 이용하여 그 다형성을 조사하고 돼지의 일당증체량, 등지방두께, 사료요구율, 정육율과 그 유전자형간의 연관성을 규명하고자 실시하였다. FABP4 유전자에 대해 각 단일염기에 관한 PCR-RFLP를 이용하여 $400{\sim}800\;bp$ 산물을 증폭한 후 각각의 제한효소로 사용하여, 얻어진 FABP4 유전자의 빈도는 품종별로 다르게 나타났다. 통계적 분석을 통하여 각 유전자형에 대한 경제 형 질과 연관성을 분석한 결과 일당증체량, 등지방두께, 정육율, 사료요구량은 다른 유전자형을 가진 개체들이 유의적으로 우수한 능력을 보였다 (P<0.05). FABP4유전자는 일당증체량, 정육율, 등지방두께에 높은 연관성이 있음을 관찰하였다. 따라서 돼지의 성장과 정육율에 관련된 선발력을 높이기 위해서 FABP4 유전자의 다형성 분석에서 검증된 PCR marker를 우량돼지육종 계획에 있어 분자생물학적 선발 marker로 사용할 수 있을 것으로 사료된다.

복원 소재로서 지역 종자 적용을 위한 억새와 갈대의 유전적 변이분석 (Genetic Difference Analysis and Environmental Assessment of Miscanthus sinensis and Phragmites australis to Apply Regional Seed for Restoration in Korea)

  • 홍선희;박상용;민경도;김재윤
    • 환경생물
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    • 제36권4호
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    • pp.463-470
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    • 2018
  • 본 연구는 국내 염습지 해안 복원의 주요 식물인 갈대와 내건성 대표 식물인 억새의 지역별 유전자형 분석을 통해 지역별 복원종자 적용에 대한 타당성을 검증고자 하는 연구로서, SNP를 활용한 근연관계 분석 결과 억새는 홍성군 집단이 다른 지역과 상이한 유전적 변이를 보인 반면, 갈대는 모든 지역에서 동시다발적인 변이양상이 나타낸다. 이를 통하여 억새의 경우 우리나라 전역에 발생하는 건조지에서 억새시료를 사용할 때는 지역별로 수집한 종자를 활용하는 것이 합리적이나 부득이하게 다른 지역의 식물 자원을 사용한다고 해도 유전적인 교란이 크게 발생하지 않을것으로 보인다. 갈대의 경우 전 지역에서 유전적 변이가 다양하며 억새에 비하여 유전적 변이가 상대적으로 많이 나타나고 있기 때문에 염류 피해지의 복원에 활용할 수 있는 자원인 갈대의 경우 종자를 지역별로 수집하기 위한 다양한 인프라를 구축하여 향후 복원 사업에 대비하여야 한다.

Simulation Study on Parentage Analysis with SNPs in the Japanese Black Cattle Population

  • Honda, Takeshi;Katsuta, Tomohiro;Mukai, Fumio
    • Asian-Australasian Journal of Animal Sciences
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    • 제22권10호
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    • pp.1351-1358
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    • 2009
  • Parentage tests using polymorphic DNA marker are commonly performed to avoid incorrect recording of the parental information of livestock animals, and single-nucleotide polymorphisms (SNPs) are becoming the method of choice. In Japanese Black cattle, parentage tests based on the exclusion method using microsatellite markers are currently conducted; however, an alternative SNP system aimed at parentage tests has recently been developed. In the present study, two types of simulations were conducted using the pedigree data of two subpopulations in the breed (subpopulations of Hyogo and Shimane prefectures) in order to examine the effect of actual genetic and breeding structures. The first simulation (simulation 1) investigated the usefulness of SNPs for excluding a close relative of the true sire; the second one (simulation 2) investigated the accuracy of sire identification tests for multiple full-sib putative sires by a combined method of exclusion and paternity assignment based on the LOD score. The success rates of excluding a single fullsib and sire of the true sires were, respectively, 0.9915 and 0.9852 in Hyogo and 0.9848 and 0.9852 in Shimane, when 50 SNPs with minor allele frequency (MAF: q) of 0.25${\leq}$q${\leq}$0.35 were used in simulation 1. The success rates of sire identification tests based solely on the exclusion method were relatively low in simulation 2. However, assuming that 50 SNPs with MAF of 0.25${\leq}$q${\leq}$0.35 or 0.45${\leq}$q${\leq}$0.5 were available, the total success rates including achievements due to paternity assignment were, respectively, 0.9430 and 0.9681 in Hyogo and 0.8999 and 0.9399 for Shimane, even when each true sire was assumed to compete with 50 full-sibs.

Haptoglobin SNP의 돼지 일당 증체량에 관한 효과 (Effects of SNPs in Haptoglobin on Average Daily Gain in Pig)

  • 김명직;정호영;조규호;전기준;김진형
    • 한국수정란이식학회지
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    • 제23권3호
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    • pp.197-201
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    • 2008
  • In order to provide information of genetic variants for Haptoglobin (Hp) gene, which may be related to weight traits in pig, a total of 235 animals from National Institute of Animal Science (NIAS) were screened with 3 primers. The primer sequences were selected using the porcine cDNA sequences based on NM_214000, and the exon boundaries were estimated. Genetic variants were observed using direct sequencing analysis, and there were 9 SNPs detected at nucleotide positions 503 (A/G), 509 (A/G), 709 (C/T), 734 (C/A), 742 (G/A), 769 (A/G), 840 (C/T), 876 (C/T) and 882 (C/A). All the SNPs were located in coding regions, and mutations caused amino acid changes at nucleotide positions 503, 509, 734, 742 and 769. Allele frequencies of SNPs were estimated for all segments. The SNPs at nucleotide position 509 (p<0.0001) and 734 (p<0.05) were significantly associated with average daily gain, but no significance was observed with other SNPs. From the results, the identified SNPs may be a useful candidate marker for the porcine weight gain traits.

POU class 1 homeobox 1 gene polymorphisms associated with growth traits in Korean native chicken

  • Manjula, Prabuddha;Choi, Nuri;Seo, Dongwon;Lee, Jun Heon
    • Asian-Australasian Journal of Animal Sciences
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    • 제31권5호
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    • pp.643-649
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    • 2018
  • Objective: POU class 1 homeobox 1 (POU1F1) mediates growth hormone expression and activity by altering transcription, eventually resulting in growth rate variations. Therefore, we aimed to identify chicken POU1F1 polymorphisms and evaluate the association between single nucleotide polymorphisms (SNPs) and growth-related traits, and logistic growth curve parameter traits (${\alpha}$, ${\beta}$, and ${\gamma}$). Methods: Three SNPs (M_1 to M_3) were used to genotype 585 $F_1$ and 88 $F_0$ birds from five Korean native chicken lines using a polymerase chain reaction-restriction fragment length polymorphism method. Results: Single marker analyses and traits association analyses showed that M_2 was significantly associated with body weight at two weeks, weight gain from hatch to 2 weeks, and weight gain from 16 to 18 weeks (p<0.05). M_3 was significantly associated with weight gain from 14 to 16 weeks and from 16 to 18 weeks, and asymptotic body weight (${\alpha}$) (p<0.05). No traits were associated with M_1. The POU1F1 haplogroups were significantly associated with weight gain from 14 to 16 weeks (p = 0.020). Linkage disequilibrium test and Haploview analysis shown one main haploblock between M_2 and M_3 SNP. Conclusion: Thus, POU1F1 significantly affects the growth of Korean native chickens and their growth curve traits.

두록 정자의 운동학적 특성과 후보 유전자 ESR2 유전적 다형성과의 연관성 분석 (Investigation on Association of ESR2 polymorphism as a Candidate Gene for Duroc sperm motility and kinematic characteristics)

  • 정용대;정진영;사수진;김기현;조은석;유동조;최정우;장현준;우제석;박성권
    • 한국수정란이식학회지
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    • 제31권3호
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    • pp.287-291
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    • 2016
  • For evaluating the boar semen quality, sperm motility (MOT) is an important parameter because the movement of spermatozoa indicates active metabolism, membrane integrity and fertilizing capacity. Estrogen receptors 2(ESR2) is involved in estrogen related apoptosis in cell cycle spermatogenesis, but their functions have not been confirmed in pig until now. Therefore, this study was conducted to analyze their association with sperm motility and kinematic characteristics. DNA samples from 105 Duroc pigs with records of semen motility and kinematic characteristics [Total motile spermatozoa (MOT), Curvilinear velocity(VCL), Straight-line velocity(VSL), the ratio between VSL and VCL(LIN), Amplitude of Lateral Head displacement(ALH)] were analyzed. A SNP in coding region of ESR2 g.35547A > G in exon 5 was associated with MOT (p < 0.05) in Duroc population. Therefore, we suggest that the porcine ESR2 gene may be used as a molecular marker for Duroc boar semen quality, although its functional effects were not defined yet. These results might shed new light on the roles of ESR2 in spermatogenesis as candidate gene for boar fertility, but still the lack of association across populations should be considered.

Population genetic analysis of special purpose dogs: linkage disequilibrium and effective population size

  • Lee, Doo Ho;Lee, Soo Hyun;Kang, Ji Min;Ju, Ho Young;Lee, Cheol Koo;Choi, Bong Hwan;Lee, Seung Hwan
    • 농업과학연구
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    • 제44권4호
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    • pp.549-557
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    • 2017
  • As exchanges between countries become more active, new threats such as drugs, illegal imports of food and medicines, and terrorism are present all over the world. From this, increased border security that protects people's safety is becoming a new issue. The activities of special purpose dogs that detect these threats in advance are becoming very important. One of the obstacles in securing superior individuals is musculoskeletal disorders which interfere with the work of special purpose dogs. In order to search for genes associated with these genetic disorders, we conducted genomic analysis using linkage disequilibrium information and investigated genetic characteristics to know heterozygosity and inbreeding status in the population. In this study, two breeds (Malinois, Shepherd) of army dogs and three breeds (Malinois, Shepherd, Retriever) from public databases were used for comparison. The 170K SNP marker panel was used for this study. In the principal component analysis, it was confirmed that clusters were formed for each breed. The number of effective populations differed for each cultivar, but this was due to the difference in numbers of individuals for each breed used for the analysis. The results of heterozygosity decay analysis showed that heterozygous alleles decreased with each generation. In the army dog group, if the population number is maintained properly, the frequency of allele genotype will not decrease significantly.

Effects of a Novel p.A41P Mutation in the Swine Myogenic factor 5 (MYF5) Gene on Protein Stabilizing, Muscle Fiber Characteristics and Meat Quality

  • Ryu, Youn-Chul;Lee, Eun-A;Chai, Han-Ha;Park, Jong-Eun;Kim, Jun-Mo
    • 한국축산식품학회지
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    • 제38권4호
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    • pp.711-717
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    • 2018
  • Myogenic factor 5 (MYF5) plays an important role in regulating skeletal muscle fiber characteristics, consequently affecting meat production and quality. We identified a novel p.A41P mutation in exon1 of the porcine MYF5 gene by direct sequencing. The mutation was predicted to be destabilizing in protein structure based on the resultant amino acid substitution. We estimated the significant substitution effect of p.A41P on the energy stabilization of Myf5 protein structure. Then, we demonstrated that the mutation in Yorkshire population significantly affected muscle fiber type I composition (p<0.05), loin-eye area of lean meat content (p<0.05) and filter-fluid uptake of meat quality (p<0.01). Furthermore, dominant effects significantly influenced total muscle fiber number (p<0.05). This study suggests that the novel p.A41P mutation in porcine MYF5 may be a valuable genetic marker to affect the muscle fiber characteristics and consequently improve meat production quality and quantity.

Utility of Selected Non-coding Chloroplast DNA Sequences for Lineage Assessment of Musa Interspecific Hybrids

  • Swangpol, Sasivimon;Volkaert, Hugo;Sotto, Rachel C.;Seelanan, Tosak
    • BMB Reports
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    • 제40권4호
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    • pp.577-587
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    • 2007
  • Single-copy chloroplast loci are used widely to infer phylogenetic relationship at different taxonomic levels among various groups of plants. To test the utility of chloroplast loci and to provide additional data applicable to hybrid evolution in Musa, we sequenced two introns, rpl16 and ndhA, and two intergenic spacers, psaA-ycf3 and petA-psbJ-psbL-psbF and combined these data. Using these four regions, Musa acuminata Cola(A)- and M. balbisiana Colla (B)-containing genomes were clearly distinguished. Some triploid interspecific hybrids contain A-type chloroplasts (the AAB/ABB) while others contain B-type chloroplasts (the BBA/BBB). The chloroplasts of all cultivars in 'Namwa' (BBA) group came from the same wild maternal origin, but the specific parents are still unrevealed. Though, average sequence divergences in each region were little (less than 2%), we propose that petA-psbJ intergenic spacer could be developed for diversity assessment within each genome. This segment contains three single nucleotide polymorphisms (SNPs) and two indels which could distinguish diversity within A genome whereas this same region also contains one SNP and an indel which could categorize B genome. However, an inverted repeat region which could form hairpin structure was detected in this spacer and thus was omitted from the analyses due to their incongruence to other regions. Until thoroughly identified in other members of Musaceae and Zingiberales clade, utility of this inverted repeat as phylogenetic marker in these taxa are cautioned.

Study on The Responseness to Oriental Medicine Therapy and Single-Nucleotide Polymorphism in Korean Cerebral Infarction Patients

  • Lee, Se-Yun;Lee, Yoon-Kyoung;Kim, Jae-Su;Lee, Kyung-Min;Jung, Tae-Young;Lim, Seong-Chul
    • 동의생리병리학회지
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    • 제22권4호
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    • pp.993-999
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    • 2008
  • Ischemic brain injury such as cerebral infarction is characterized by acute local inflammatory response mediated by cytokines. The mechanism of cytokines involved in cerebral infarction progression are uncompletely revealed yet. We investigated to find out the relationship between single nucleotide polymorphism (SNP) of interleukin 4 receptor(IL4R) and Oriental Medicine therapy efficacy in patients with cerebral infarction for 2 weeks. Oriental Korean Medicine therapies (herbal medicine and acupuncture) were applied daily and motor functions of patients were assessed using the modified cerebral vascular accident (MCVA) scores. Genotyping for IL4R polymorphism was done by pyrosequencing analysis. In IL4R genotypes and the frequency of alleles, there was no significant difference between cerebral infarction patients (n=124) and controls group (n=175). And there was also no significant difference among good and bad responders in cerebral infarction patients. In this study the IL4R genotype might not be the risk factor or a good predictive genetic marker for good and bad responders in cerebral infarction patients in Korean. Further studies including different cytokine genes will be necessary for the exact genetic markers.