• Title/Summary/Keyword: Single Nucleotide Polymorphism [SNP]

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Associations between AT-rich Interactive Domain 5B gene Polymorphisms and Risk of Childhood Acute Lymphoblastic Leukemia: a Meta-analysis

  • Zeng, Hui;Wang, Xue-Bin;Cui, Ning-Hua;Nam, Seungyoon;Zeng, Tuo;Long, Xinghua
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권15호
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    • pp.6211-6217
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    • 2014
  • Previous genome-wide association studies (GWAS) have implicated several single nucleotide polymorphisms (SNPs) in the AT-rich interactive domain 5B (ARID5B) gene with childhood acute lymphoblastic leukemia (ALL). However, replicated studies reported some inconsistent results in different populations. Using meta-analysis, we here aimed to clarify the nature of the genetic risks contributed by the two polymorphisms (rs10994982, rs7089424) for developing childhood ALL. Through searches of PubMed, EMBASE, and manually searching relevant references, a total of 14 articles with 16 independent studies were included. Odds ratios (ORs) with 95% confidence intervals (95%CI) were calculated to assess the associations. Both SNPs rs10994982 and rs7089424 showed significant associations with childhood ALL risk in all genetic models after Bonferroni correction. Furthermore, subtype analyses of B-lineage ALL provided strong evidence that SNP rs10994982 is highly associated with the risk of developing B-hyperdiploid ALL. These results indicate that SNPs rs10994982 and rs7089424 are indeed significantly associated with increased risk of childhood ALL.

Genome-association analysis of Korean Holstein milk traits using genomic estimated breeding value

  • Shin, Donghyun;Lee, Chul;Park, Kyoung-Do;Kim, Heebal;Cho, Kwang-hyeon
    • Asian-Australasian Journal of Animal Sciences
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    • 제30권3호
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    • pp.309-319
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    • 2017
  • Objective: Holsteins are known as the world's highest-milk producing dairy cattle. The purpose of this study was to identify genetic regions strongly associated with milk traits (milk production, fat, and protein) using Korean Holstein data. Methods: This study was performed using single nucleotide polymorphism (SNP) chip data (Illumina BovineSNP50 Beadchip) of 911 Korean Holstein individuals. We inferred each genomic estimated breeding values based on best linear unbiased prediction (BLUP) and ridge regression using BLUPF90 and R. We then performed a genome-wide association study and identified genetic regions related to milk traits. Results: We identified 9, 6, and 17 significant genetic regions related to milk production, fat and protein, respectively. These genes are newly reported in the genetic association with milk traits of Holstein. Conclusion: This study complements a recent Holstein genome-wide association studies that identified other SNPs and genes as the most significant variants. These results will help to expand the knowledge of the polygenic nature of milk production in Holsteins.

Preliminary research for molecular markers of two invasive toxic weeds, Cenchrus L. (Poaceae) species, based on NGS technique

  • Hyun, JongYoung;Jung, Joonhyung;Do, Hoang Dang Khoa;Kim, Joo-Hwan
    • 한국자원식물학회:학술대회논문집
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    • 한국자원식물학회 2019년도 춘계학술대회
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    • pp.71-71
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    • 2019
  • The genus Cenchrus (Poaceae), containing ca. 23 species, is distributed throughout Australia, Africa, Indian sub-continent, and America. In Korea, Cenchrus longispinus (Hack.) Fernald, especially introduced to Daecheong Island in 1999, is one of the most hazardous invasive plant which causes serious environmental threats, biodiversity damages and physically negative impact on humans and animals. Based on the next-generation sequencing (NGS) technology, we characterized the chloroplast (cp) genome sequences of C. longispinus which contains a large single copy (LSC; 80,223 bp), a small single copy (SSC; 12,449 bp), separated by a pair of inverted repeats (IRs; 22,236 bp). Additionally, we analyzed the cp genome sequences of Cenchrus echinatus L. which contains a large single copy (LSC; 80,220 bp), a small single copy (SSC; 12,439 bp), separated by a pair of inverted repeats (IRs; 22,236 bp). These cp genomes consist of 75 unique genes, 4 rRNA coding genes, 33 tRNA coding genes and 21 duplicated in the IR regions, of which the gene content and organization are similar to the other Poaceae cp genomes. We selected 40 potential regions in cp genomes of two Cenchrus species and one Korean Pennisetum species to develop new single nucleotide polymorphism (SNP) markers for identifying C. longispinus based on amplification-refractory mutation system (ARMS) technique. The markers, inferred from SNP in matK and ndhF genes, show effectiveness to recognize C. longispinus from C. echinatus and Korean native species Pennisetum alopecuroides (L.) Spreng.

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Gene counseling의 영양관리 적용

  • 김경태
    • 대한지역사회영양학회:학술대회논문집
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    • 대한지역사회영양학회 2005년도 춘계학술대회
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    • pp.9-13
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    • 2005
  • 많은 질병의 발생원인의 약 60%이상이 환경요인 때문이라는 것이 잘 알려져 있고 영양과 식이섭취의 중요도는 이중에서도 가장 중요한 것으로 알려져 있다. 특히 Human Genome Project의 완성 이후 Genomics시대에 발맞추어 여러 가지 high throughput 실험들이 가능해지고 Single Nucleotide Polymorphism (SNP)의 발굴이 진행되면서 영양소와 식이요인들의 유전자 발현과 유전학적 변이와의 상관관계가 질병의 예방차원에서 앞으로 연구되어야할 큰 과제로 대두되고 있으며 이를 통한 개개인에 적합한 영양섭취를 권장하는 새로운 방향의 영양관리에 가능성에 대해 많은 관심이 쏠리고 있다. 이에 본 발표에서는 Nutrinogenomics와 Nutrinogenetics의 연구방향과 연구 성과들을 소개하여 유전적 요인에 의한 식이요소의 섭취경향이 질병에 어떠한 관련이 있는지, 최근까지의 연구에서의 제한점은 어떠한 것이 있는지 살펴보고자 한다.

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유전체 역학 연구를 위한 시료의 보관과 분석 (Specimen of Storage and Analysis for Genomic Epidemiology)

  • 이관희;홍윤철
    • Journal of Preventive Medicine and Public Health
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    • 제36권3호
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    • pp.209-212
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    • 2003
  • Because of advances of technologies in the field of genmic epidemiology in the recent years, specimen collection, storage and analysis became an essential part of research methodologies. DNA is now being used in epidemiologic studies to evaluate genetic risk factors and specimens other than the fresh whole blood can De used for PCR. Therefore, All nucleated cells, such as buccal swabs and urine specimens, are suitable for DNA analysis. For an unlimited source of genomic DNA, EBV transformation of lymphocytes can be used for immortalization. However, the type of specimen collected in genomic epidemiologic studies will depend on the study where the epidemiologist play a leading role for the design. We also briefly described various finds of analysis for SNP that is an essential part of the genomic epidemiology.

Functional Haplotype Frequencies of the Interleukin-1B Promoter in the Korean Population

  • Lee, Kyung-A
    • Genomics & Informatics
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    • 제6권1호
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    • pp.29-31
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    • 2008
  • Single nucleotide polymorphisms (SNPs) in the promoter region of the IL-1B (interleukin-1) gene have been implicated in a variety of diseases that have an inflammatory component. However, there has been significant heterogeneity among study results, especially between Caucasian and Asian populations. Recently, it has been reported that SNPs in the IL-1B gene affect transcription, according to haplotype context, and genetic association studies may be more informative if functional SNP haplotypes of population are analyzed. Therefore, we estimated the distribution of IL-1B promoter haplotypes in 433 Koreans using the three major functional IL-1B promoter SNPs (IL-1B -1464, -511, and -31) and compared the results with those in Caucasians. The difference in IL-1B promoter haplotype frequency between Korean and Caucasian populations was statistically significant. The potentially more inflammatory haplotypes had higher frequencies in Koreans when compared with Caucasians. These Korean haplotype data will be useful for future association studies between IL-1B SNPs and disease risk.

미소전극어레이형 DNA칩을 이용한 유전자다형의 전기화학적 검출 (Electrochemical Detection of Single Nucleotide Polymorphism (SNP) Using Microelectrode Array on a DNA Chip)

  • 최용성;권영수;박대희
    • 대한전기학회논문지:전기물성ㆍ응용부문C
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    • 제53권5호
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    • pp.286-292
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    • 2004
  • In this study, an integrated microelectrode array was fabricated on glass slide using microfabrication technology. Probe DNAs consisting of mercaptohexyl moiety at their 5-end were spotted on the gold electrode using micropipette or DNA arrayer utilizing the affinity between gold and sulfur. Cyclic voltammetry in 5mM ferricyanide/ferrocyanide solution at 100 ㎷/s confirmed the immobilization of probe DNA on the gold electrodes. When several DNAs were detected electrochemically, there was a difference between target DNA and control DNA in the anodic peak current values. It was derived from specific binding of Hoechst 33258 to the double stranded DNA due to hybridization of target DNA. It suggested that this DNA chip could recognize the sequence specific genes. It suggested that multichannel electrochemical DNA microarray is useful to develop a portable device for clinical gene diagnostic System.

한국재래닭의 품종 다양성 연구를 위한 유전자 마커 개발에 대한 고찰: 총설 (DNA Markers for the Genetic Diversity in Korean Native Chicken Breeds: A Review)

  • 서동원;이준헌
    • 한국가금학회지
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    • 제43권2호
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    • pp.63-76
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    • 2016
  • The genetic diversity of Korean native chicken is important for conservation of native chicken breeds and developing economically valuable traits in Korea. In this review, various types of genetic markers using Korean native chickens were investigated, which are mtDNA variations, microsatellite markers, markers in Major Histocompatibility Complex (MHC), and single nucleotide polymorphisms (SNPs). These genetic markers are suitable for breed discrimination and diversity studies because of their high polymorphism status. Thus, the purpose of this study was to summarize the genetic markers developed in the Korean native chickens and diversity studies using these breeds. Ultimately, these markers can be used for the future studies for understanding of genetic characteristics.

Haplotype Reconstruction 소프트웨어의 성능 평가 및 비교 (The Performance Evaluation and Comparison of Softwares for Haplotype Reconstruction)

  • 김상준;나경락;여상수;김성권
    • 한국정보과학회:학술대회논문집
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    • 한국정보과학회 2004년도 봄 학술발표논문집 Vol.31 No.1 (B)
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    • pp.313-315
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    • 2004
  • SNP(Single Nucleotide Polymorphism)은 생물학적 다양성에 관한 연관성 연구(Association Study)에서 이용되어지고 있다. haplotype을 구하기 위해 genotype data를 Haplotype Reconstruction을 하여 한 가닥씩 분리를 한다. Haplotype Reconstruction의 방법은 생물학적 접근법(molecular method)과, 계산적 접근방법(in-silico method)으로 연구되고 있다 계산적 접근법은 생물학적 접근법에 비해 적은 비용과 시간이 소요되는 장점을 지니지만, phase problem으로 인하여 생물학적 접근법에 비해 정확도가 낮다는 단점을 갖는다. 이런 문제를 해결하기 위한 설러 알고리즘들과 프로그램들이 연구 및 개발되고 있다. 본 논문에서는 현재 개발된 프로그램들에 대해서 다양한 테스트를 통한 각 프로그램의 성능 비교를 하였고, 특성과 문제점을 파악하였다.

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