- Advantages of the single nucleotide polymorphism-based noninvasive prenatal test
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Kim K
- KMID: 2149847
- J Genet Med.
- 2015 Dec;12(2):66-71.
- doi: 10.5734/JGM.2015.12.2.66
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... -
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- Genetic association study of single nucleotide polymorphism in dentistry
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Kim JH, Lee JH
- KMID: 2195529
- J Korean Acad Prosthodont.
- 2011 Oct;49(4):341-345.
- doi: 10.4047/jkap.2011.49.4.341
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... -
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- Application of Single Nucleotide Polymorphism in Forensic Science
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Kim HY, Lee SD
- KMID: 2250389
- Korean J Leg Med.
- 2008 May;32(1):61-67.
With the development of far advanced techniques in biomedical areas, individual identification using genetic polymorphism has become powerful tool in forensics. Nowadays, use of several commercial kits and automatic fluorescence... -
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- Understanding of single nucleotide polymorphism of human genome
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Oh JH, Yoon BW
- KMID: 2190178
- J Korean Assoc Oral Maxillofac Surg.
- 2008 Aug;34(4):450-455.
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.... -
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- MitGEN: Single Nucleotide Polymorphism DB Browser for Human Mitochondrial Genome
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Park HS, Lee SU
- KMID: 2053082
- Genomics Inform.
- 2004 Sep;2(3):147-148.
Recently completed mitochondrial genome databses from public resources provide us with a better understanding of individual mitochondrial genomes for population genomics. By determining the substitution rate of the genomic sequences,... -
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- Genetic association study of a single nucleotide polymorphism of kallikrein-related peptidase 2 with male infertility
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Lee SH, Lee S
- KMID: 1805482
- Clin Exp Reprod Med.
- 2011 Mar;38(1):6-9.
- doi: 10.5653/cerm.2011.38.1.6
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... -
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- Diagnostic approach for genetic causes of intellectual disability
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Yim SY
- KMID: 2055583
- J Genet Med.
- 2015 Jun;12(1):6-11.
- doi: 10.5734/JGM.2015.12.1.6
Intellectual disability (ID) is the most common disability among people under the age of 20 years. In the absence of obvious non-genetic causes of ID, the majority of cases of... -
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- An Association of C/T Polymorphism in the TFF1 Gene and the Susceptibility to Gastric Cancer
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Maeng EJ, Song JH, Sung SY, Cao Z, Park WS
- KMID: 2372876
- J Korean Gastric Cancer Assoc.
- 2008 Sep;8(3):113-119.
PURPOSE: This study investigated whether a single nucleotide polymorphism (SNP) located at position -2 in the Kozak sequence of the TFF1 gene is associated with H. pylori infection and the... -
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- Prostacyclin synthase C1117A polymorphism is not associated with variant angina
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Seong IW, Lim DS, Kim JH, Lee JH, Choi SW, Jeong JO
- KMID: 1652684
- Korean J Med.
- 2004 Apr;66(4):383-388.
BACKGROUND: Coronary artery spasm plays an important role in the pathogenesis of variant angina (VA). Prostacyclin is one of the endothelium derived relaxing factors. The association between the novel single... -
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- Lack of Association between PTPN22 Gene +1858 C>T Polymorphism and Susceptibility to Generalized Vitiligo in a Turkish Population
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Akbas H, Dertlioglu SB, Dilmec F, Atay AE
- KMID: 2265702
- Ann Dermatol.
- 2014 Feb;26(1):88-91.
- doi: 10.5021/ad.2014.26.1.88
BACKGROUND: Vitiligo is an autoimmune polygenic disorder characterized by loss of pigmentation due to melanocyte destruction. The PTPN22 gene +1858 C>T single nucleotide polymorphism (rs2476601) has been shown to be... -
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- Evaluation of KRAS let-7 lcs6 Polymorphism in Korean Populations by Pyrosequencing
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Lee JH, Kim DK
- KMID: 1434331
- Korean J Phys Anthropol.
- 2012 Sep;25(3):131-136.
A single nucleotide polymorphism (SNP) in the 3'-untranslated region of the KRAS oncogene (rs61764370) was recently reported to act as a genetic marker for increased risk of developing human cancers.... -
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- Distribution and Study on Single Nucleotide Polymorphism (SNP) of spvR Gene in Korean Isolates of Salmonella
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Kwon HJ, Park KY, Park JY, Park YH, Kim SJ, Yoo HS
- KMID: 1808202
- Infect Chemother.
- 2004 Dec;36(6):335-340.
BACKGROUND: The Salmonella virulence plasmid (spv) genes (spvR, A, B, C and D) on the large virulence plasmids of pathogenic Salmonella serotypes can replace the virulence of the whole plasmid.... -
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- Relationships between beta-fibrinogen gene -455 G/A Polymorphism, 448 G/A Polymorphism, and Plasma Fibrinogen Concentration in Korean Ischemic Stroke Patients
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Lee JS, Cho HJ, Choi HS, Hong HP, Ko YG
- KMID: 1837065
- J Korean Soc Emerg Med.
- 2007 Oct;18(5):406-413.
PURPOSE: The aim of this study was to evaluate the beta-fibrinogen gene -455 G/A and 448 G/A polymorphisms and to determine the relationship of these single nucleotide polymorphisms with plasma... -
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- Estrogen receptor alpha polymorphism in boys with constitutional delay of growth and puberty
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Kang BH, Kim SY, Park MS, Yoon KL, Shim KS
- KMID: 2047464
- Ann Pediatr Endocrinol Metab.
- 2013 Jun;18(2):71-75.
- doi: 10.6065/apem.2013.18.2.71
PURPOSE: There were a lot of reports regarding associations of polymorphisms in the estrogen receptor alpha (ESR1). with many disorders. But, those with constitutional delay of growth and puberty (CDGP)... -
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- Ring Chromosome 5 in Acute Myeloid Leukemia Defined by Whole-genome Single Nucleotide Polymorphism Array
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Huh J, Mun YC, Chung WS, Seong CM
- KMID: 1380093
- Ann Lab Med.
- 2012 Jul;32(4):307-311.
- doi: 10.3343/alm.2012.32.4.307
Chromosomes forming a corresponding ring cannot be clearly defined by conventional cytogenetics or FISH. Karyotypic analyses using whole-genome single nucleotide polymorphism arrays (SNP-A) may result in the identification of previously... -
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- Association between IL17A/IL17RA Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population
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Lew BL, Cho HR, Haw S, Kim HJ, Chung JH, Sim WY
- KMID: 2156857
- Ann Dermatol.
- 2012 Feb;24(1):61-65.
- doi: 10.5021/ad.2012.24.1.61
BACKGROUND: Alopecia areata is marked by autoimmune assault on the hair follicle resulting in hair loss. T helper 17 cell subset has important roles in protecting the host against extracellular... -
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- Association between a Missense Polymorphism (rs3924999, Arg253Gln) of Neuregulin 1 and Schizophrenia in Korean Population
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Yang SA
- KMID: 2165416
- Exp Neurobiol.
- 2012 Dec;21(4):158-163.
- doi: 10.5607/en.2012.21.4.158
Neuregulin 1 (NRG1) is associated with the pathogenesis of schizophrenia through controlling activation and signaling of neurotransmitter receptors. Influence to schizophrenia development by the NRG1 gene may differ in individuals,... -
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- Single Nucleotide Polymorphism in Patients with Moyamoya Disease
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Park YS
- KMID: 2191248
- J Korean Neurosurg Soc.
- 2015 Jun;57(6):422-427.
- doi: 10.3340/jkns.2015.57.6.422
Moyamoya disease (MMD) is a chronic, progressive, cerebrovascular occlusive disorder that displays various clinical features and results in cerebral infarct or hemorrhagic stroke. Specific genes associated with the disease have... -
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- Genome-Wide Association Study of Hepatitis in Korean Populations
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Hong Y, Oh S
- KMID: 2391497
- Genomics Inform.
- 2014 Dec;12(4):203-207.
- doi: 10.5808/GI.2014.12.4.203
Hepatitis is a common and serious disease for the Korean population. It is caused by a virus, the A and B types of which are plentiful in Koreans. In this... -
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- Association of a Missense ALDH2 Single Nucleotide Polymorphism (Glu504Lys) With Benign Prostate Hyperplasia in a Korean Population
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Seok H, Yoo KH, Kim YO, Chung JH
- KMID: 2233004
- Int Neurourol J.
- 2013 Dec;17(4):168-173.
PURPOSE: Aldehyde dehydrogenase 2 (ALDH2) is a well-known gene involved in alcohol and aldehyde metabolism. Moreover, recent studies have reported associations between ALDH2 and age-related disorders. Benign prostate hyperplasia (BPH)... -
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