• 제목/요약/키워드: Single Nucleotide

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ALDH and CYP2E1 Single Nucleotide Polymorphism Distribution in Korean

  • Han, Dong-Hoon;Kim, Jeong-Hee
    • International Journal of Oral Biology
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    • 제31권3호
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    • pp.107-112
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    • 2006
  • Aldehyde dehydrogenase (ALDH) plays an important role in alcohol metabolism; ALDH is responsible for the oxidation of acetaldehyde generated during alcohol oxidation. ALDH is also known to oxidize various other endogenous and exogenous aldehydes. Cytochrome P-450 2E1 (CYP2E1), a liver microsomal enzyme, also metabolizes acetaldehyde and ethanol and can be induced by other inducers including acetone and ethanol. We examined single nucleotide polymorphisms (SNP) of ALDH and CYP2E1 genotypes in Korean. Restriction fragment length polymorphism (RFLP) method was used to determine ALDH and CYP2E1 SNP. Mutation in ALDH was 60% (heterozygote 46.7% and homozygote 13.3%) among 15 cases. CYP2E1 mutation was 52.7% (heterozygote 47.4% and homozygote 5.3%) among 19 cases.

Application of Random Forests to Association Studies Using Mitochondrial Single Nucleotide Polymorphisms

  • Kim, Yoon-Hee;Kim, Ho
    • Genomics & Informatics
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    • 제5권4호
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    • pp.168-173
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    • 2007
  • In previous nuclear genomic association studies, Random Forests (RF), one of several up-to-date machine learning methods, has been used successfully to generate evidence of association of genetic polymorphisms with diseases or other phenotypes. Compared with traditional statistical analytic methods, such as chi-square tests or logistic regression models, the RF method has advantages in handling large numbers of predictor variables and examining gene-gene interactions without a specific model. Here, we applied the RF method to find the association between mitochondrial single nucleotide polymorphisms (mtSNPs) and diabetes risk. The results from a chi-square test validated the usage of RF for association studies using mtDNA. Indexes of important variables such as the Gini index and mean decrease in accuracy index performed well compared with chi-square tests in favor of finding mtSNPs associated with a real disease example, type 2 diabetes.

Global Genetic Analysis

  • Elahi, Elahe;Kumm, Jochen;Ronaghi, Mostafa
    • BMB Reports
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    • 제37권1호
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    • pp.11-27
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    • 2004
  • The introduction of molecular markers in genetic analysis has revolutionized medicine. These molecular markers are genetic variations associated with a predisposition to common diseases and individual variations in drug responses. Identification and genotyping a vast number of genetic polymorphisms in large populations are increasingly important for disease gene identification, pharmacogenetics and population-based studies. Among variations being analyzed, single nucleotide polymorphisms seem to be most useful in large-scale genetic analysis. This review discusses approaches for genetic analysis, use of different markers, and emerging technologies for large-scale genetic analysis where millions of genotyping need to be performed.

Overexpression and Purification of Reverse Transcriptase of Retron EC83 by Changing the Downstream Sequence of the Initiation Codon

  • JEONG , DAE-WON;LIM, DONG-BIN
    • Journal of Microbiology and Biotechnology
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    • 제14권6호
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    • pp.1280-1285
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    • 2004
  • Retron is a prokaryotic genetic element, producing a short single-stranded DNA covalently linked to RNA (msDNA-RNA) by a reverse transcriptase (RT). In retron EC83, msDNA is further processed at between the 4th and the $5^{th}$ nucleotides, leaving a 79 nucleotide-long single-stranded DNA as a final product. To investigate this site-specific cleavage in msDNA synthesis, we purified the RT protein of retron EC83. Initially, RT ORF was cloned under the tac promoter, but the expression was very poor largely because of poor translation. In order to facilitate translation, the nucleotide sequence for the first nine amino acids was randomized with synonymous codons. This change of downstream sequence of translational initiation codon greatly affected the efficiency of translation. We could isolate clones which greatly increased RT production, and their sequences were compared to those of the low producers. The overproduced protein was purified and was shown to have RT activity.

Association of a Single Nucleotide Polymorphism in the 5'-Flanking Region of Porcine HSP70.2 with Backfat Thickness in Duroc Breed

  • Chen, Ming-Yu;Huang, San-Yuan;Lin, En-Chung;Hseu, Tzong-Hsiung;Lee, Wen-Chuan
    • Asian-Australasian Journal of Animal Sciences
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    • 제16권1호
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    • pp.100-103
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    • 2003
  • Higher environmental temperature affects the economic performance of pigs. Heat shock protein 70 has been shown to play an important role in thermoresistance. The purpose of this study was to assess the effect of a single nucleotide polymorphism in the 5'-flanking region of porcine HSP70.2 on growth performance in Taiwanese Duroc. The genotype of this nt 393 polymorphic site could be verified by digestion with Bsa WI restriction enzyme of a PCR product. Pigs with TT and TC genotypes have thinner backfats than those with CC type (p<0.05). The result suggested that the polymorphic Bsa WI site in the 5'flanking region of porcine HSP70.2 may be used as a marker for the early selection of ultrasonic backfat thickness in Duroc pigs.

Identification of Single Nucleotide Polymorphism Markers in the Laccase Gene of Shiitake Mushrooms (Lentinula edodes)

  • Kim, Ki-Hwan;Ka, Kang-Hyeon;Kang, Ji Hyoun;Kim, Sangil;Lee, Jung Won;Jeon, Bong-Kyun;Yun, Jung-Kuk;Park, Sang Rul;Lee, Hyuk Je
    • Mycobiology
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    • 제43권1호
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    • pp.75-80
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    • 2015
  • We identified single nucleotide polymorphism (SNP) markers in the laccase gene to establish a line-diagnostic system for shiitake mushrooms. A total of 89 fungal isolates representing four lines, including Korean registered, Korean wild type, Chinese, and Japanese lines, were analyzed. The results suggest that SNP markers in the laccase gene can be useful for line typing in shiitake mushrooms.

Obesity: Interactions of Genome and Nutrients Intake

  • Doo, Miae;Kim, Yangha
    • Preventive Nutrition and Food Science
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    • 제20권1호
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    • pp.1-7
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    • 2015
  • Obesity has become one of the major public health problems all over the world. Recent novel eras of research are opening for the effective management of obesity though gene and nutrient intake interactions because the causes of obesity are complex and multifactorial. Through GWASs (genome-wide association studies) and genetic variations (SNPs, single nucleotide polymorphisms), as the genetic factors are likely to determine individuals' obesity predisposition. The understanding of genetic approaches in nutritional sciences is referred as "nutrigenomics". Nutrigenomics explores the interaction between genetic factors and dietary nutrient intake on various disease phenotypes such as obesity. Therefore, this novel approach might suggest a solution for the effective prevention and treatment of obesity through individual genetic profiles and help improve health conditions.

Prediction and Analysis of Breast Cancer Related Deleterious Non-Synonymous Single Nucleotide Polymorphisms in the PTEN Gene

  • Naidu, C Kumaraswamy;Suneetha, Y
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권4호
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    • pp.2199-2203
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    • 2016
  • One of the most common cancer types faced by the women around the world is breast cancer. Among the several low, moderate and high penetrance genes conferring susceptibility to breast cancer, PTEN is one which is known to be mutated in many tumor types. In this study, we predicted and analyzed the impact of three deleterious coding non-synonymous single nucleotide polymorphisms rs121909218 (G129E), rs121909229 (R130Q) and rs57374291 (D107N) in the PTEN gene on the phenotype of breast tumors using computational tools SIFT, Polyphen-2, PROVEAN, MUPro, POPMusic and the GETAREA server.