• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제34권4호
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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").

• Toxicological Research
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• 제16권1호
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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.

• Journal of Genetic Medicine
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• 제12권2호
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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.

• 한국자원식물학회지
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• 제24권5호
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• pp.584-590
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• 2011

의성종 마늘의 유묘로부터 상처(wound)에 특이적으로 발현되는 cytochrome P450 유전자군의 하나인 P450-Esg cDNA를 탐색하였다. P450-Esg는 1,419 bp의 open reading frame(ORF)을 가지고 473개의 아미노산을 가진 polypeptide를 코딩하는 것으로 나타났다. 국내와 몽골로부터 수집한 12개의 재배종으로 부터 P450-Esg 유사 유전자의 염기서열을 비교한 결과 시작코돈(ATG)에서 472~510 bp 및 1,210~1,240 bp 부위의 염기에서 재배종간에 차이를 보이는 염기서열을 다수 확인하였다. cDNA 1,210~1,240 bp의 부위는 P450 유전자에서 공통적으로 알려진 heme binding domain으로, 각 지역에서 수집된 재배종은 염기서열뿐만 아니라 아미노산 서열에 있어서도 특이적인 변이를 보였다. cDNA 472~510 bp 부위에서 코딩하는 13개 아미노산의 서열은 12개 재배종에서 모두 동일하였으나, 13개 아미노산 중 7개에서 재배종 마다 각각 다른 DNA 염기로 코딩하는 단일 염기다형성(single nucleotide polymorphism)을 보이는 서열을 확인하였다. 이 결과는 다양하게 존재하는 국내외 마늘 재배종을 구분하는 marker로 사용될 것이며, 외국산 마늘에 대한 유전적 우선권을 확보하는 수단으로 사용될 것이다.

• Clinical and Experimental Reproductive Medicine
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• 제38권1호
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• pp.6-9
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• 2011

Objective: To investigate a kallikrein-related peptidase 2 (KLK2) single nucleotide polymorphism (SNP) in relation to male infertility because of its role in semen processing. We investigated the genetic association of the KLK2+255G>A genotype with male infertility. Methods: We genotyped the SNP site located in intron 1 (+255G>A, rs2664155) of KLK2 from 218 men with male infertility (cases) and 220 fertile males (controls). Pyrosequencing analysis was performed for the genotyping. Results: The SNP of the KLK2 gene had a statistically significant association with male infertility (p<0.05). The odds ratio for the minor allele (+255A) in the pooled sample was 0.47 (95% confidence intervals, 0.26-0.85) for rs2664155. Conclusion: The relationship of KLK2 SNP to male infertility is statistically significant, especially within the non-azoospermia group. Further study is needed to understand the mechanisms associated with male infertility.

• 동의생리병리학회지
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• 제21권5호
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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.

• 대한치과보철학회지
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• 제49권4호
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• pp.341-345
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• 2011

DNA 복제과정에서의 오류(error)에 의한 유전적 변이(genetic variation)를 통해 개개인이 가지고 있는 유전변이형을 조사하고 특정 질환에 대한 감수성의 차이를 밝히는 유전체 연관성 연구가 의학계 전반에 활발히 진행되고 있다. 개인 간의 DNA 상에 존재하는 염기서열의 차이를 보이는 유전적 변이를 통해 개인간의 형질이 다르게 표현 되는 것을 다형성이라고 하는데 다형성의 원인 중 염기 서열 한 쌍의 변이에 의하여 다른 형질로 표현되는 것을 단일염기다형성(Single Nucleotide Polymorphism; SNP)이라고 정의한다. 유전자 분석 기술의 놀랄만한 발전과 컴퓨터를 이용한 분석 프로그램의 개발에 의해 SNP과 질병의 연관성에 관한 연구는 의학계 모든 분야에서 가속화 되고 있다. 최근 급격하게 빨리 진척되는 연구들에 힘입어 특정 질병에 대한 특정 유전자가 가지는 위험도를 분석하고 환자를 유전적 위험도에 따라 분류하여 진단, 예방 및 치료하는 환자 맞춤식의 진료가 모든 의약학 분야에 적용 될 것으로 생각 된다. 치과 영역에서는 충치와 치주 질환과의 관련성에 대해서 초기 단계의 연구가 진행되고 있는 수준이다. 본 종설에서는 유전체 질병 연구의 현황과 치과 영역에서 시작된 연구를 소개 하고자 한다.

• Animal Bioscience
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• 제36권10호
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• pp.1499-1507
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• 2023

Objective: The study investigated the origin of the Akhal-Teke horse using genome-wide single-nucleotide polymorphism (SNP) data and mitochondrial hypervariable region 1 (HVR-1) nucleotide sequences Methods: Genome-wide SNP data from 22 breeds (481 horses) and mitochondrial HVR-1 sequences from 24 breeds (544 sequences) worldwide to examine the origin of the Akhal-Teke horse. The data were analyzed using principal component analysis, linkage disequilibrium analysis, neighbor-joining dendrograms, and ancestry inference to determine the population relationships, ancestral source, genetic structure, and relationships with other varieties. Results: A close genetic relationship between the Akhal-Teke horse and horses from the Middle East was found. Analysis of mitochondrial HVR-1 sequences showed that there were no shared haplotypes between the Akhal-Teke and Tarpan horses, and the mitochondrial data indicated that the Akhal-Teke horse has not historically expanded its group. Ancestral inference suggested that Arabian and Caspian horses were the likely ancestors of the Akhal-Teke horse. Conclusion: The Akhal-Teke horse originated in the Middle East.

• 사상체질의학회지
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• 제13권2호
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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.

• 한국자원식물학회:학술대회논문집
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• 한국자원식물학회 2005년도 춘계 학술발표대회
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• pp.143-143
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• 2005