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Pitfalls of ABO Genotyping Based on Targeted Single Nucleotide Variant Analysis Due to a Nondeletional O Allele Lacking c.261delG: First Report of ABO*O.09.01 in Korea

Yang D, Kim B, Song DY, Kim TY, Kim MJ, Cho SI, Kim H, Seong MW, Park SS

No abstract available.
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Molecular Genetic and Serologic Analysis of the O allele in the Korean Population

Lee JY, Song SA, Oh SH

BACKGROUND: The recent expansion of knowledge about various ABO alleles has led to the need for a comprehensive measure to cover the numerous polymorphisms dispersed in the ABO gene. A...
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Antiepileptic drug-induced severe cutaneous adverse reactions and HLA alleles: A report of five cases with lymphocyte activation test

Kim EY, Kim MY, Park CS, Choi JH, Ghim JL, Kim HS, Shin JG

Antiepileptic drugs (AEDs) can induce severe cutaneous adverse reactions (SCARs) such as Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome. We...
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Enrichment of rare alleles within epigenetic chromatin marks in the first intron

Jo SS, Choi SS

In previous studies, we demonstrated that some sites in the first intron likely regulate gene expression. In the present work, we sought to further confirm the functional relevance of first...
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The Allele 2 of the VNTR Polymorphism in the Gene That Encodes a Natural Inhibitor of IL-1β, IL-1RA Is Favorably Associated With Chronic Otitis Media

Živković M, Kolić I, Jesić S, Jotić A, Stanković A

OBJECTIVES: Chronic otitis media (COM) is followed by irreversible tissue damage and destruction of the middle ear structures, with the possibility of complications under the maintenance of inflammation. Inflammatory mediators...
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Lower Levels of Serum Adiponectin and the T Allele of rs1501299 of the ADIPOQ Gene Are Protective against Polycystic Ovarian Syndrome in Jordan

Alfaqih MA, Khader YS, Al-Dwairi , Alzoubi A, Al-Shboul , Hatim A

BACKGROUND: Polycystic ovary syndrome (PCOS) is a common reproductive disorder. Obesity, which is linked with lower adiponectin levels, increases a woman's risk of developing PCOS; however, the association between adiponectin...
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HLA-C*17, DQB1*03:01, DQA1*01:03 and DQA1*05:05 Alleles Associated to Bullous Pemphigoid in Brazilian Population

Chagury AA, Sennes LU, Gil JM, Kalil J, Rodrigues , Rosales CB, Miziara ID

BACKGROUND: Bullous pemphigoid (BP) is an autoimmune disease with bullous vesicles and an incidence of 0.2 to 1.4 per 100,000 inhabitants. Many studies have been published demonstrating the association of...
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Allopurinol-induced severe cutaneous adverse reactions: A report of three cases with the HLA-B*58:01 allele who underwent lymphocyte activation test

Kim EY, Seol JE, Choi JH, Kim NY, Shin JG

Allopurinol-induced severe cutaneous adverse reactions (SCARs) such as Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome are reportedly associated with the...
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Validation of a Rapid, Robust, Inexpensive Screening Method for Detecting the HLA-B*58:01 Allele in the Prevention of Allopurinol-Induced Severe Cutaneous Adverse Reactions

Nguyen DV, Vida C, Chu HC, Fulton R, Li J, Fernando S

The HLA B*58:01 allele has been worldwide reported as a pharmacogenetic susceptibility to allopurinol-induced severe cutaneous adverse reactions (SCARs). To prevent these life-threatening conditions, the American College of Rheumatology hingly...
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Allele and Haplotype Frequencies of Human Leukocyte Antigen-A, -B, -C, -DRB1, and -DQB1 From Sequence-Based DNA Typing Data in Koreans

In JW, Roh EY, Oh S, Shin S, Park KU, Song EY

BACKGROUND: Data on allele frequencies (AFs) and haplotype frequencies (HFs) of HLA-C and -DQB1 are limited in Koreans. We investigated AFs and HFs of HLA-A, -B, -C, -DRB1, and -DQB1...
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A Family Study of Ael02 Allele Expressing Different Phenotypes Depending on Co-inherited ABO Alleles

Choi HW, Cho D, Jeon MJ, Lee JS, Song JW, Shin MG, Shin JH, Suh SP, Ryang DW

  • KMID: 2254112
  • Korean J Blood Transfus.
  • 2006 Dec;17(2):146-152.
Compared with A101, Ael02 is characterized by 467C>T, 646T>A and 681G>A polymorphisms, resulting in two amino acid substitutions (Pro156Leu and Phe216Ile). The first study in Korea was reported at 2003....
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Allele Distribution of Human Surfactant Protein A in Otitis Media with Effusion

Han KY, Oh CH, Jang HS, Kim JM, Kim SW, Oh MH

  • KMID: 1593089
  • Korean J Otolaryngol-Head Neck Surg.
  • 2006 Dec;49(12):1145-1150.
BACKGROUND AND OBJECTIVES: Surfactant protein A (SP-A) which plays a role in the innate host defense of lung is also expressed in Eustachian tube. However the genes underlying the susceptibility...
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Analysis for Eight ABO Alleles in Korean Population

Song SH, Chang HE, Ryu KC, Lee HJ, Park KU, Song J, Han KS

BACKGROUND: ABO genotyping is a useful tool in case of ABO discrepancies and in legal medicine. Recent knowledge of various alleles in the ABO gene has led to the need...
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The Frequency of c.34 C>T Mutant Allele in AMPD1 among Koreans

Kim HS, Kim DS

  • KMID: 2343244
  • J Korean Neurol Assoc.
  • 2006 Aug;24(4):407-409.
No abstract available.
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Serologic Variability of the A(var) (784G>A) and Its Property of Different Expression Depending on Co-inherited ABO Allele

Cho D, Jeon MJ, Song JW, Lee JS, Choi HW, Kwon SY, Kim SH, Shin MG, Shin JH, Suh SP, Ryang DW

  • KMID: 2300079
  • Korean J Blood Transfus.
  • 2006 Jun;17(1):61-70.
BACKGROUND: A allele, A(var), characterized by a 784G>A polymorphism (Asp262Asn) has been identified only in Korean A(weak)B donors. This study evaluated the serological and genetic characteristics of thirteen samples with...
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Alleles for Associated with Fy(a), Fy(b), Fy(x) and Fy Antigens in a Korean Population

Park KU, Jeon AR, Heo SR, Song J, Han KS

  • KMID: 2300083
  • Korean J Blood Transfus.
  • 2005 Dec;16(2):209-217.
BACKGROUND: In the Duffy blood group system (Fy(a), Fy(b), Fy(x), and Fy antigens), Fy(x) antigen is associated with weak Fy(b) while Fy antigen means the null phenotype Fy (a-b-). Fyx...
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Genotype and allele frequencies of the platelet glycoprotein genes associated with arterial thrombosis in Korean population

Park HD, Jeon AR, Jin SK, Park KU, Song J, Han KS, Kim JQ

  • KMID: 1863004
  • Korean J Blood Transfus.
  • 2005 Jun;16(1):1-13.
BACKGROUND: Ischemic heart disease and cerebrovascular disease are the main causes of death and platelets are responsible for the formation of arterial thrombi. Platelet membrane glycoproteins (GP) associated with coagulation...
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Thiopurine S-methyltransferase Polymorphisms and the Relationship between the Mutant Alleles and the Adverse Effects in Systemic Lupus Erythematosus Patients Taking Azathioprine

Oh SI, Jun JB, Cho DY, Kang CW, Lee HS, Uhm WS, Kim TH, Yoo DH, Bae SC

  • KMID: 1585319
  • J Korean Rheum Assoc.
  • 2005 Mar;12(1):18-25.
OBJECTIVES: To elucidate the genetic basis for Thiopurine methyltransferase (TPMT) polymorphism and investigate the relationship between TPMT mutant and the adverse effect in patients with systemic lupus erythematosis (SLE) taking...
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Detection of a Hybrid A int Allele by PCR-RFLP

Kang SH, Kim YC, Hur M, Shin DH, Cho HC, Lee KM, Fukumori Y

  • KMID: 2300091
  • Korean J Blood Transfus.
  • 2004 Dec;15(2):153-161.
No abstract available.
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Distribution of HLA-A, B, C Allele and Haplotype Frequencies in Koreans

Hwang SH, Oh HB, Yang JH, Kwon OJ, Shin ES

  • KMID: 2143211
  • Korean J Lab Med.
  • 2004 Dec;24(6):396-404.
BACKGROUND: The HLA system is known to be the most polymorphic gene cluster in the human genome. HLA allele and haplotype distribution varies widely among different ethnic groups. In this...
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