• Title, Summary, Keyword: Nucleotide Polymorphism

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A Single Nucleotide Polymorphism in Transforming Growth Factor-$\beta$ type II Receptor of the Rat

  • Ryu, Doug-Young
    • Toxicological Research
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    • v.16 no.1
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    • pp.59-61
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    • 2000
  • A single nucleotide polymorphism in the transforming growth factor-$\beta$ type II receptor (TGE$\beta$RII) gene of the rat was studied. TGF$\beta$RII is a tumor suppressor that is frequently inactivated by mutation in human colon cancers. A novel nucleotide polymorphism of G to A(or A to G), which causes a silent mutation at codon 129, was found in G:C rich sequence in the TGF$\beta$RII gene of Sprague-Dawley rats. The results suggest that genetic polymorphism occures without a strain of the laboratory animal.

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Construction and Expression of Mutant cDNAs Responsible for Genetic Polymorphism in Aldehyde Oxidase in Donryu Strain Rats

  • Adachi, Mayuko;Itoh, Kunio;Masubuchi, Akiko;Watanabe, Nobuaki;Tanaka, Yorihisa
    • BMB Reports
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    • v.40 no.6
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    • pp.1021-1027
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    • 2007
  • We demonstrated the genetic polymorphism of aldehyde oxidase (AO) in Donryu strain rats: the ultrarapid metabolizer (UM) with nucleotide mutation of (377G, 2604C) coding for amino acid substitution of (110Gly, 852Val), extensive metabolizer (EM) with (377G/A, 2604C/T) coding for (110Gly/Ser, 852Val/Ala), and poor metabolizer (PM) with (377A, 2604T) coding for (110Ser, 852Ala), respectively. The results suggested that 377G > A and/or 2604C > T should be responsible for the genetic polymorphism. In this study, we constructed an E. coli expression system of four types of AO cDNA including Mut-1 with (377G, 2604T) and Mut-2 with (377A, 2604C) as well as naturally existing nucleotide sequences of UM and PM in order to clarify which one is responsible for the polymorphism. Mut-1 and Mut-2 showed almost the same high and low activity as that of the UM and PM groups, respectively. Thus, the expression study of mutant AO cDNA directly revealed that the nucleotide substitution of 377G > A, but not that of 2604C > T, will play a critical role in the genetic polymorphism of AO in Donryu strain rats. The reason amino acid substitution will cause genetic polymorphism in AO activity was discussed.

Genetic Variation of Cytochrome P450 Genes in Garlic Cultivars (마늘유래 Cytochrome P450 유전자의 변이 분석)

  • Kwon, Soon-Tae;Kamiya, Juli
    • Korean Journal of Plant Resources
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    • v.24 no.5
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    • pp.584-590
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    • 2011
  • Wound inducible P450-Esg cDNA, one of cytochrome P450 gene family, was isolated from shoot of Euiseong garlic cultivar. P450-Esg cDNA possesses highly conserved heme-binding domain in the nucleotide sequence, and 1,419 bp of open reading frame (ORF) coding of 473 amino acids. Based on the nucleotide sequence analysis of P450-Esg homologous from twelve garlic cultivars, two domains, one domain between 472 to 510 bp, and the other between 1,210 to 1,249 bp from start codon (ATG), showed various nucleotide polymorphism among cultivars. Sequence of heme-binding domain in P450-Esg homologous, which is located at the domain between 1,210 to 1,240 bp from start codon, showed various nucleotide polymorphism as well as amino acid sequence polymorphism among twelve garlic cultivars. Anther domain, between 472 to 510 bp from start codon, showed exactly same amino acid sequence in the twelve garlic cultivars, but there were various single nucleotide polymorphism to the cultivars.

UNDERSTANDING OF SINGLE NUCLEOTIDE POLYMORPHISM OF HUMAN GENOME (인간 게놈의 단일염기변형 (Single Nucleotide Polymorphism; SNP)에 대한 이해)

  • Oh, Jung-Hwan;Yoon, Byung-Wook
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.34 no.4
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    • pp.450-455
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    • 2008
  • A Single Nucleotide Polymorphism (SNP) is a small genetic change or variation that can occur within a DNA sequence. It's the difference of one base at specific base pair position. SNP variation occurs when a single nucleotide, such as an A, replaces one of the other three nucleotide letters-C, G, or T. On average, SNP occur in the human population more than 1 percent of the time. They occur once in every 300 nucleotides on average, which means there are roughly 10 million SNPs in the human genome. Because SNPs occur frequently throughout the genome and tend to be relatively stable genetically, they serve as excellent biological markers. They can help scientists locate genes that are associated with disease such as heart disease, cancer, diabetes. They can also be used to track the inheritance of disease genes within families. SNPs may also be associated with absorbance and clearance of therapeutic agents. In the future, the most appropriate drug for an individual could be determined in advance of treatment by analyzing a patient's SNP profile. This pharmacogenetic strategy heralds an era in which the choice of drugs for a particular patient will be based on evidence rather than trial and error (so called "personalized medicine").

Nucleotide Polymorphism of Green-like Visual Pigment Gene from Eyed and Blind Forms of the Mexican Tetra, Astyanax fasciatus (Mexican tetra (Astyanax fasciatus)의 녹색 시간 색소포 유전자의 염기서열 다형화 현상)

  • 송춘복;쑈죠요코야마
    • Journal of Aquaculture
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    • v.11 no.3
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    • pp.295-301
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    • 1998
  • Since the end of the Pliocene, ancestral strains of Astyanax fasciatus have been accidently washed into different caves at the time of flooding and have lost their eyes and body pigments. Availability of this independently derived cave fish and their ancestral form within a single species provided a unique opportunity for studying the process of molecular evolution of the visual pigment gene. The nucleotide sequence comparisons of an ancestral river fish and two cave fish showed that nucleotide polymorphism of a green-like visual pigment gene between the eyed and blind form of A. fasciatus was much higher than that between the same blind form. Considering the number of nucleotide substitutions per nucleotide site and the direction of the nucleotide substitutions, more nucleotide substituions between the different forms of fish rater than the same one were probably due to more frequent mutations in the eyed river form. Nucleotide substitutions per site at the intron have been ocurred more than three times faster than those at the exon. This result indicates that the functional constraint has affected the green-like visual pigment gene of the blind cave fish although its eye sight is no longer required.

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Effect of Butyrophilin Gene Polymorphism on Milk Quality Traits in Crossbred Cattle

  • Bhattacharya, T.K.;Misra, S.S.;Sheikh, Feroz D.;Sukla, Soumi;Kumar, Pushpendra;Sharma, Arjava
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.7
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    • pp.922-926
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    • 2006
  • A genetic polymorphism study on butyrophilin gene was carried out to explore variability of this gene and to estimate effects of such variability on milk quality traits in crossbred cattle. Polymorphism was unraveled by conducting Hae III PCR-RFLP of this gene. Three genotypes such as AA, BB and AB and two alleles namely A and B were observed in crossbred population. The frequencies of genotypes and alleles were 0.78, 0.17 and 0.04 for AA, AB and BB genotypes, respectively, and 0.87 and 0.13 for A and B alleles, respectively. The nucleotides, which have been substituted from allele A to B, were observed as C to G ($71^{st}$ nucleotide), C to T ($86^{th}$ nucleotide), A to T ($217^{th}$ nucleotide), G to A ($258^{th}$ nucleotide), A to C ($371^{st}$ nucleotide) and C to T ($377^{th}$ nucleotide). The nucleotide substitutions at $71^{st}$, $86^{th}$ and $377^{th}$ position of the fragment were found as silent mutations whereas nucleotide changes at $217^{th}$, $258^{th}$ and $371^{st}$ positions were detected as substitution of amino acid lysine with arginine, valine with isoleucine, and leucine with proline from allele A to B. The genotypes had significant effects ($p{\leq}0.05$) on total milk solid%, fat%, SNF%, while showing nonsignificant impact on total protein%. AA genotype produced highest average yield for all the traits.

Advantages of the single nucleotide polymorphism-based noninvasive prenatal test

  • Kim, Kunwoo
    • Journal of Genetic Medicine
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    • v.12 no.2
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    • pp.66-71
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    • 2015
  • Down syndrome screening with cell-free DNA (cfDNA) in the maternal plasma has recently received much attention in the prenatal diagnostic field. Indeed, a large amount of evidence has already accumulated to show that screening tests with cfDNA are more sensitive and specific than conventional maternal serum and/or ultrasound screening. Globally, more than 1,000,000 of these noninvasive prenatal tests (NIPTs) have been performed to date. There are several different methods for NIPTs that are currently commercially available, including shotgun massively parallel sequencing, targeted massively parallel sequencing, and single nucleotide polymorphism (SNP)-based methods. All of these methods have their own advantages and disadvantages. In this review, I will focus specifically on the SNP-based NIPT.

Genetic association study of single nucleotide polymorphism in dentistry (단일염기다형성을 이용한 치과 질환 유전체 연구)

  • Kim, Jee-Hwan;Lee, Jae-Hoon
    • The Journal of Korean Academy of Prosthodontics
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    • v.49 no.4
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    • pp.341-345
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    • 2011
  • Genetic association study has been progressed in medicine along with advance in genetic technology. It focused on the individual differences in genotype due to errors occurring during DNA duplication, which can cause vulnerability to specific diseases. Polymorphism defines the varieties in phenotype due to those genetic variations. Polymorphism due to change in one DNA base sequence is called as a Single Nucleotide Polymorphism. In the near future, the evaluation of relative risk to specific disease according to SNP will be essential part of fundamental of medicine for the diagnosis, treatment and prevention. Dental caries and periodontal diseases has been first subject to genetic association study in dentistry and broaden out to other areas like bone formation and resorption. This article presents the current state of genetic association study and its application to dentistry.

Study on Effectiveness of Korean Medicine Therapy and the Relation between Effectiveness of that and Single Nucleotide Gene Polymorphism in Stroke Patients (중풍의 한방치료 효과와 단일염기유전자다형성과의 연관성 연구)

  • Lee, Yoon-Kyoung;Kim, Jae-Su;Lee, Pyeong-Jae
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.21 no.5
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    • pp.1307-1312
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    • 2007
  • This study was designed to investigate effectiveness of korean medicine therapy and the relation between effectiveness of that and single nucleotide gene polymorphism in stroke patients. This study was carried out on 92 stroke patients who were admitted to the department of acupuncture & moxibustion, college of Oriental medicine, Daegu Haany University and 112 healthy Korean. All patients were received Korean medicine therapy including acupuncture and herbal medicine for stroke and assessed by National Institutes of Health Stroke Scale(NIHSS). Blood samples from all subjects were obtained for DNA extraction. The extracted DNA was amplified by polymerase chain reaction(PCR). PCR products were visualized by 1.5% agarose gel electrophoresis. Through Pyrosequencing of PCR product, the polymorphism of single nucleotide gene was genotyped automatically. There were significant difference between before and after Korean medicine therapy in NIHSS. Genotypes were AA, AG, GG, but there was no significant difference between control and stroke groups. And there was not any statistical significant allelic frequency difference between control and stroke groups. We concluded that Korean medicine therapy in stroke patient can improve NIHSS, but there is no definite relation between effectiveness of Korean medicine therapy and single nucleotide gene polymorphism in stroke patients. This study need to be confirmed in large patients and further studies about relation with gene polymorphism are required.

Research of genetic polymorphisms of Sasang Constitution - focusing on SNP of MTHFR gene - (사상체질의 유전적 다형성 연구 - MTHFR의 단일염기다형성을 중심으로 -)

  • Song, Il-Byung;Lee, Su-Kyung
    • Journal of Sasang Constitutional Medicine
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    • v.13 no.2
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    • pp.177-181
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    • 2001
  • Sasang Constitutional Medicine is based on the diversity of Human being and medically developed the response variation to diseases and medicines. The diversity is categorized as four from physiology, pathology, symptoms, to therapy. So that is related the difference of individual characteristics in Western Science. Single nucleotide polymorphism is the basic tool to research genetic polymorphisms. We researched the polymorphism site of MTHFR gene on 1p36.3, which is relatively reported the occlusive vascular disease. In the clinical research of brain infarction, the occurrence was different according to constitution. The 677C/T Polymorphism site of MTHFR was not significantly different in constitution group. But this research was the first trial about the single nucleotide polymorphism according to constitution. The more researchs of many genes are necessary to find the characteristics of constitution.

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