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DNA 수준에서 한국인 HLA-Class Ⅰ 대립유전자형 및 일배체형 분포 : the Molecular Basis
최희백,김형재,김태규,김창규,정태준,한훈 대한조혈모세포이식학회 1997 대한조혈모세포이식학회지 Vol.2 No.1
The products of the human leukocyte antigen (HLA) have been detected by the serological or cellular methods. With the evailability of DNA sequences for alleles of the HLA system, and with the development of molecular biological techniques it has been possible to define the genotypes in HLA genes. And the amplification of DNA using sequence-specific primers has been proved as a reliable and rapid method for typing of HLA class II genes. We studied the distribution of the HLA-A, -B, C genotypes on 114 unrelated individuals by amplification refractory mutation system-polymerase chain reaction (ARMs-PCR). 13, 24 and 14 alleles in HLA-A, B and C genes were detected in normal Korean. The genotypes showing frequencies more than 18 percent were A*02(65.8%), A*24(02, 03) (41.2%), A*33(01, 02) (21.1%), A*11(01, 02) (20.2%), B*15(01, 02, 03, 04, 05)/B52(011, 012) (21.9%), B815(01, 04, 05, 06, 07, 12, 19, 20) (19.3%), B*40(02, 04, 05, 06) (18.4%), Cw*08(01, 02, 03) (28.9%), Cw*0303(27.2%), Cw*0304(26.3%) and Cw*01(01, 02) (24.6%). And most common 2-loci hyplotypes with frequencies larger than 0.04 were A*02-B*15(02, 08, 11, 15) (HF: 0.045), A*24(02, 03)-B*51(01, 02, 03, 04, 05)/*52(011, 012)(HF:0.044), B*51(01, 02, 03, 04, 05)/*52 (011, 012)-Cw14(01, 02) (HF: 0.069). These results suggest that the DNA typing of HLA class I may be an efficient typing method compared with the conventional method.
한국인에서 건선과 KIR (Killer Cell Immunoglobulin-like Receptor) 유전자형 사이의 연관성
최은정,최희백,김수연,윤호열,박민지,김태윤,김태규 대한면역학회 2005 Immune Network Vol.5 No.3
Background: Psoriasis is a multifactorial autoimmune skin disease with a pathogenesis that has remained obscure. Recently, T cells bearing natural killer receptors (NKRs) were precisely and strongly targeted as new putative pathogenic immunocytes in psoriasis. Among NKRs, killer cell immunoglobulin-like receptor (KIR) is the major molecule recognizing HLA class I allotypes and might be closely related to psoriasis. Methods: To investigate the association of KIR genotype and patients with psoriasis in Korean, we defined the 14 KIR genotypes in 96 patients with psoriasis and 86 healthy controls using PCR-SSP methods. Results: The frequencies of KIR2DS4 and KIR3DL1 were significantly decreased in psoriasis compared with controls (RR=0.21, p<0.02). When patients were divided into two subgroups at the age of onset, type I (<30 years) and type II (≥30 years) respectively, these phenomena were similarly observed independent of groups divided (type I: RR=0.26, p<0.005; type II: RR=0.14, p<0.0006). When the patients were divided into subgroups according to the age of onset and family history, the frequencies of KIR2DS4, KIR3DL1, and KIR2DS3 were significantly decreased in type I compared with type II psoriasis (3DL1, 2DS4: p<0.004; 2DS3: p<0.04) and were significantly decreased in psoriasis without family history compared to with family history (3DL1, 2DS4: p<0.007; 2DS3: p<0.05). The frequency of haplotype combination BB was significantly increased in psoriasis compared with controls (RR=2.74, p<0.009). Conclusion: These results suggest that KIR genotype is a factor for the occurrence and development of psoriasis and in future how combinations of HLA and KIR genes influence psoriasis needs to be defined.
성필수,최희백,김수연,홍성우,박정화,송명준,이성원,유찬란,최상욱,한남익,김태규,윤승규 대한의학회 2011 Journal of Korean medical science Vol.26 No.11
Natural killer (NK) cells play an important role in innate immunity, especially in the response to viral infections, such as hepatitis C virus (HCV). Killer cell immunoglobulin-like receptors (KIRs) are the primary receptors of NK cells that mediate innate immunity. KIRs are also involved in acquired immunity, because some KIRs are expressed on the surface of certain subsets of T cells. In this study, the frequency of KIR genes, HLA-C allotypes, and combinations of KIR genes with their HLA-C ligands were evaluated in two different groups of the Korean population: controls and patients with chronic HCV infection. The study population consisted of 147 Korean patients with chronic HCV infection. The frequency of KIR2DS2 in patients with chronic HCV infection was 9.5% which was significantly lower than 19.5% of the control (P < 0.01). However, there were no significant differences in the frequency of other KIR genes, HLA-C allotypes or different combinations of KIR genes with their HLA-C ligands. This study can contribute to the further prospective study with a larger scale, suggesting the assumption that KIR2DS2 might aid in HCV clearance by enhancing both the innate and acquired immune responses of people in Korea.
박민지,최희백,윤호열,최은정,김수연,김희제,엄기성,이석,김동욱,이종욱,민우성,김춘추,김태규 대한혈액학회 2007 Blood Research Vol.42 No.1
배경: 백혈병은 주조직적합항원(major histocompatibility antigens, MHCs)과의 연관성이 밝혀진 최초의 질병이기 때문에, 인체조직적합항원(human leukocyte antigen, HLA)을 포함하여 백혈병의 감수성 유전자 (susceptibility gene)를 찾는 연구가 많이 진행되고 있다. 본 연구에서는 4가지 상염색체성 부조직적합항원(minor histocompatibility antigens, mHags), HA-1, -2, -8과 HB-1 유전자가 다양한 백혈병과 유전학적 연관성이 있는지 조사하였다. 특히 HB-1은 백혈병과 연관된 부조직적합항원 중 하나로, EBV (epstein-barr virus)에 감염된 B세포와 B세포 계열의 급성림프구성백혈병의 모든 아형(subtype) 세포에 제한적으로 발현한다.방법: 각 부조직적합항원 유전자는 정상 한국인 139명과 백혈병 환자 36명을 대상으로 PCR-SSP 방법으로 동정하였다. 백혈병 환자는 병태와 세포종류에 따라, 급성림프구성, 급성골수성, 만성골수성으로 분류하여 부조직적합항원의 유전자형, 표현형, 유전자의 빈도를 각각 정상 한국인 집단과 비교하였다.결과: HA-1, -2와 -8 유전자의 유전자 빈도는 정상 한국인과 비교했을 때, 다양한 백혈병 분류 집단에서 통계적인 유의성을 찾을 수 없었다. 하지만 HB-1 유전자에서는 HB-1 H 유전자형이 전체 백혈병 환자(P= 0.03, OR=1.82, CI=1.08~3.06)와 특히 급성골수성백혈병 환자(P=0.01, OR=2.4, CI=1.21~4.76)에서 정상 한국인에 비해 유의하게 증가되었다.
이승헌,최희백,유성열,장욱진 대한진단검사의학회 2017 Annals of Laboratory Medicine Vol.37 No.3
Before correction: Seung Heon Lee, Ph.D.1, Hee Baeg Choi, Ph.D.2, Sung Yul Yu, Ph.D.3, Uck Jin Chang, M.S.2, Chang Ki Kim, M.D.1, and Hee Jin Kim, M.D.1 After correction: Seung Heon Lee, Ph.D.1, Hee Baeg Choi, Ph.D.2, Sung Yul Yu, Ph.D.3, and Uck Jin Chang, M.S.2
HLA and Disease Associations in Koreans
안스데반,김태규,최희백 대한면역학회 2011 Immune Network Vol.11 No.6
The human leukocyte antigen (HLA), the major histocompatibility complex (MHC) in humans has been known to reside on chromosome 6 and encodes cell-surface antigen-presenting proteins and many other proteins related to immune system function. The HLA is highly polymorphic and the most genetically variable coding loci in humans. In addition to a critical role in transplantation medicine, HLA and disease associations have been widely studied across the populations worldwide and are found to be important in prediction of disease susceptibility, resistance and of evolutionary maintenance of genetic diversity. Because recently developed molecular based HLA typing has several advantages like improved specimen stability and increased resolution of HLA types,the association between HLA alleles and a given disease could be more accurately quantified. Here, in this review, we have collected HLA association data on some autoimmune diseases, infectious diseases, cancers, drug responsiveness and other diseases with unknown etiology in Koreans and attempt to summarize some remarkable HLA alleles related with specific diseases.
한국인에서 HLA유전자 부위 내 microsatellite 표지자의 분포와 HLA 대립유전자의 유전적 연관성
장정필,최은정,윤호열,최희백,김희제,조병식,민우성,이종욱,김춘추,김태규 대한면역학회 2007 Immune Network Vol.7 No.3
Background: The microsatellites within human leukocyte antigen (HLA) region show considerable polymorphism and strong linkage disequilibrium (LD) with HLA alleles. These microsatellites have been used for genetic analysis including disease mapping to understand susceptibility to autoimmune and infectious diseases. Also, use of microsatellites has recently been proposed as an approach for identifying non-HLA markers within the HLA region that could function as transplantation determinants and for the selection of potential donors for transplantation. Methods: To analyse the frequency of five microsatellites in the Korean population, genotyping for polymorphisms at five microsatellites markers (BAT2, MIB, DQCAR, D6S105 and TNFd) within HLA region was performed on 143 healthy Korean controls. Results: The most frequent genotype shown in healthy Korean controls were BAT2 8 (153 bp, 42.7%), MIB 1 (326 bp, 40.6%), DQCAR 3 (188 bp, 38.5%), D6S105 7 (126 bp, 58.0%) and TNFd 3 (128 bp, 58.0%). And common two-loci haplotypes were found as MIB 1-HLA-B*62 (HF: 10.6%), MIB 6-HLA-B*44 (HF: 7.8%), DQCAR 3-HLA-DRB1*13 (HF: 8.5%), TNFd 5-HLA-B*62 (HF: 7.8%) and D6S105 7-HLA-A*02 (HF: 16.2%). Conclusion: These data might provide useful information on the microsatellites markers with HLA region in Korean population and be helpful in further defining the clinical impact of these microsatellites. 키워드