• 제목/요약/키워드: Allelic typing

검색결과 11건 처리시간 0.017초

양극성 장애환자에서 HLA 대립형의 빈도와 질병연관성 (The Frequencies and Disease-Association of HLA Alleles in Bipolar Patients)

  • 전태연
    • 생물정신의학
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    • 제1권1호
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    • pp.79-87
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    • 1994
  • For the purpose of evaluating the human leukocyte antigen(HLA) disease-association with bipolar disorder, HLA class I and class II allelic frequencies were assessed in 37 bipolar patients and were compared to the data from normal population. HLA class 1 typing was performed with microlymphocytotoxicity method while class II(DRB1) genotyping with reverse dot blot hybridization and sandwich method. Statistical analysis consisted of relative risk, Haldane's modified relative risk, Fisher's exact test and Bonferoni's corrected P. The results were as follows : 1) Bipolar patients showed increased allelic frequency of HLA A3 which has statistical significance. 2) Allelic frequencies of HLA B7, B14 and B54 were higher, while those of B51 and B55 were lower in bipolar patients, but they were not statistically significant. 3) Both of increased frequencies of DR2 in bipolar patients and DR15 in normal controls had statistical significance. The results of the present study suggested that some of HLA allelic types might be associated with bipolar disorder. To clarify the genetic influence of HLA to bipolar disorder, we should do consecutive study of bipolar disorder with new information about HLA system including alleles.

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Molecular Analysis of HLA-C Using Polymerase Chain Reaction-Sequence Specific Primers

  • Lee, Kyung-Ok;Hong, Sung-Hoi;Kim, Min-Jung;Park, Taek-Kyu;Kim, Yoon-Jung;Lee, Kyu-Pum
    • BMB Reports
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    • 제30권1호
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    • pp.26-32
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    • 1997
  • Of all HLA class I molecules, HLA-C gene products are most poorly understood because they express at a low level on the cell surface compared to HLA-A and -B. In order to identify serologically detectable and undetectable HLA-C antigens, we have established a DNA-based tissue typing method for the HLA-C locus by PCR-SSP (polymerase chain reaction-sequence specific primers). Genomic DNA prepared from Iymphoblastoid 21 B-cell lines and 120 Korean individuals by proteinase K digestion and pheno/chloroform extractions have been typed by PCR-SSP (23 primer mixes were used). The PCR-SSP results of control cell lines were discrepant from serology in 1 case among 21 cases: Cw6 which was negative by serology but positive by PCR-SSP (cell line: MANIKA). Twenty four HLA-Cw "blank" antigens among fifty Korean individuals were completely determined by PCR-SSP DNA typing. HLA-Cw*0101 (15.3%), Cw*1401 (12.3%) and Cw*0701 (11.7%) alleles were frequently found in 120 Korean individual samples. In conclusion. the high level of discrimination for HLA-C alleles may prove useful and informative in the study of transplant survival, and identify the importance of allelic differences, not readily detectable by serology, on host and donor compatibility.

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Comparative Analysis of Salmonella enterica subsp. enterica Serovar Thompson Isolates associated with Outbreaks Using PFGE and wgMLST

  • Youngho Koh;Yunyoung Bae;Min-Jung Lee;Yu-Si Lee;Dong-Hyun Kang;Soon Han Kim
    • Journal of Microbiology and Biotechnology
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    • 제32권12호
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    • pp.1605-1614
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    • 2022
  • The strains associated with foodborne Salmonella enterica Thompson outbreaks in Korea have not been identified. Therefore, we characterized S. Thompson strains isolated from chocolate cakes linked to foodborne outbreaks in Korea. A total of 56 strains were isolated from preserved cake products, products in the supply chain distribution, the manufacturer's apparatus, and egg white liquid products used for cream preparation. Subsequently, serological typing, pathogenic gene-targeted polymerase chain reaction (PCR), pulsed-field gel electrophoresis (PFGE), and whole-genome multi-locus sequence typing (wgMLST) were performed to characterize these isolates. The antigen formula of all isolates was 7:k:1,5, namely Salmonella enterica subsp. enterica Serovar Thompson. All 56 isolates harbored invA, his, hin, and stn, and were negative for sefA and spvC based on gene-targeted PCR analyses. Based on PFGE results, these isolates were classified into one group based on the same SP6X01.011 pattern with 100% similarity. We selected 19 strains based on the region and sample type, which were subjected to wgMLST. Although the examined strains showed 100% similarity, they were classified into seven clusters based on allelic differences. According to our findings, the cause of these outbreaks was chocolate cake manufactured with egg white liquid contaminated with the same Salmonella Thompson. Additionally, comparative analysis of wgMLST on domestic isolates of S. Thompson from the three outbreaks showed genetic similarities of over 99.6%. Based on the results, the PFGE and wgMLST combination can provide highly resolved phylogeny and reliable evidence during Salmonella outbreak investigations.

Generation of Anti-HLA-DR4 Specific Antibodies by Immunization of the Recombinantly Expressed Allelic Subtype-Specific Region of the $HLA-DRB1^*0405$ Molecules

  • Park, Jung-Hyun;Cho, Eun-Wie;Lee, Yun-Jung;Chung, Jin;Hahm, Kyung-Soo;Kim, Kil-Lyong
    • BMB Reports
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    • 제31권2호
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    • pp.111-116
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    • 1998
  • HLA-DR4 is the dominant allele of MHC class II genes in Koreans. In particular, the $DRB1^*0405$ subtype has been reported to be almost exclusively expressed in Far East Asians, and has also been observed to be strongly associated with rheumatoid arthritis in Koreans and the Japanese. Identification of this specific allele has been mainly performed by PCR-based methods, which is often time consuming, costly, and involves tedious procedures such as the isolation of genomic DNA, PCR, and gel electrophoresis. To develop a more convenient tool for screening vast amounts of samples as well as to generate reagents which might also be used in other applications, in this study, antibodies were produced against this specific HLA subtype. By PCR, an allelespecific region covering the ${\beta}1$ domain of $DRB1^*0405$ was amplified and recombinantly expressed in E.coli. Immunization of Lewis rats with the purified protein yielded an allele specific antiserum. Western blot analysis showed the selective detection of the HLA-DR ${\beta}-chain$. Using this antiserum, established cell lines and peripheral blood lymphocytes were analyzed on their HLA haplotype by fluorescence activated flow cytometry. These novel antibodies will provide a powerful tool in the detection and investigation of DR4 alleles.

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Determination of HLA-A*02 Alleles Using Nested PCR-SSP in Korean Population

  • Lee, Kyung-Ok;Heo, Jeong-Ho-Ho;Kim, Hye-Jin;Lee, Eun-Mi;Hong, Sung-Hoi;Kim, Yoon-Jung
    • Animal cells and systems
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    • 제1권1호
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    • pp.129-134
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    • 1997
  • HLA-A2 is one of the most diversified HLA-class I antigen with 17 subtypes so far identified at the molecular level. HLA-A*02 subtyping has significant implications on the tissue typing for organ and bone marrow transplantations. Recently, DNA-based typing methods have been successfully applied to the elucidation of HLA gene polymorphisms. In the present study, HLA-A*O2 genotyping was established by using nested polymerase chain reaction-sequence specific primers (PCR-SSP) and distribution of A*O2 alleles were determined in Korean individuals. Genomic DNA prepared from four B-lymphoblastoid cell lines and lymphocytes from serologically defined 48 HLA-A2 Korean individuals by phenol/chloroform extractions was typed. The results of the four B-lymphoblastoid cells were consistent with the previous data typed by PCR analysis. Five A*O2 alleles-A*0201, A*0203, A*0206, A*0207 and A*0210-were commonly observed in a total of 17 A*02 alleles. Of these, A*0207 (f=49.0%) was the most frequent allele in Korean population. A*0206 (f=28.3%) and A*0201 (f=17.0%) were also found frequently while A*0203 and A*0210 types were observed in less than 5%. In conclusion, the high level of discrimination for HLA-A*O2 alleles will prove useful and informative in the study of transplant survival, and may identify the importance of allelic differences not readily detectable by serology on host and donor compatibility.

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경기도내 수계시설에서 분리된 레지오넬라균의 분포현황 및 Legionella pneumophila serogroup 1의 유전학적 다양성 연구 (Distribution of Legionella species from water systems and genetic diversity of L. pneumophila serogroup 1 in Gyeonggi-do)

  • 이현경;박용배;황선일;김영수;박난주;박광희;윤미혜
    • 미생물학회지
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    • 제53권3호
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    • pp.156-162
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    • 2017
  • 레지오넬라증은 인공수계환경이 레지오넬라균에 오염되었을 때 에어로졸의 전파에 의하여 집단 발생되는 심각한 폐렴과 높은 치명률을 일으키는 호흡기질환이다. 본 연구에서는 경기도내 수계시설로부터 147주의 레지오넬라균을 검출하였고, 시설별, 수계환경별 분포현황을 조사하였다. 분리한 레지오넬라균 중에서 Legionella pneumophila의 검출률은 85.7%로 높게 나타났으며, 혈청군을 분석한 결과 L. pneumophila serogroup (sg) 1이 주로 검출되었다. Non-L. pneumophila 중에서는 L. wadsworthii이 가장 많이 검출되었다. L. pneumophila sg 1의 유전학적 다양성을 분석하기 위해 pulsed field gel electrophoresis (PFGE)와 sequence-based typing (SBT) 방법을 사용하여 비교 분석하였다. 32주에 대해 PFGE 분석 결과 22개의 PFGE pattern을 보였고, SBT 분석 결과 9개의 유형으로 나누어졌다. PFGE와 SBT 분석에서 모두 크게 3개 group으로 분류되어 매우 유사한 결과를 나타냈다. SBT 유형 중 ST1이 가장 우점하였고, 2개의 새로운 유형도 찾아낼 수 있었다. SBT는 데이터베이스가 잘 구축되어 있어 균주 간의 유전학적 유형분석을 쉽고, 간단하게 할 수 있기 때문에 레지오넬라증의 분자역학적 연구에 유용한 방법임을 확인할 수 있었다.

양극성 장애 환자에서 CTLA-4 유전자 다형성 (Polymorphism of CTLA-4 Gene in Patients with Bipolar Disorder)

  • 전태연;이경욱;이혁재;배치운;채정호;박원명;김광수
    • 생물정신의학
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    • 제10권1호
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    • pp.80-84
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    • 2003
  • Objective : Bipolar disorder is known to have strong genetic background and cellular immune activation. Based on the hypothesis that abnormalities of normal inhibitory control of T cell immunity can contribute to the pathophysiology of bipolar disorder, we investigated the relationship between the first exon at position +49(A/G) polymorphism of cytotoxic T lymphocyte antigen 4(CTLA4) gene and bipolar disorder. Method : Among the Korean patients diagnosed as bipolar disorder according to DSM-IV, 90 patients without serious medical illness, neurologic illness, hormonal disorder, or concomitant mental illness were selected. The normal control group consisted of 149 age-and sex-matched subjects without current or past history of autoimmune diseases or mental disorder. DNA was extracted from whole blood and the exon 1 region of CTLA-4 gene was amplified by polymerase chain reaction. Gene typing was performed using single strand conformation polymorphism. Results : There were no significant differences in genotype frequencies of G/G, G/A, and A/A between the patients with bipolar disorder and the control group(48.9% vs 46.3%, 44.4% vs 39.6%, and 6.7% vs 14.1%, respectively). There were no significant differences in allelic frequencies of G and A between the patients with bipolar disorder and the control group(71.1% vs 66.1%, and 28.9% vs 33.9%, respectively). Conclusion : This study did not show the association of exon 1 polymorphism of CTLA-4 gene with bipolar disorder.

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Genetic Characteristics of 207 Microsatellite Markers in the Korean Population and in other Asian Populations

  • Choi, Su-Jin;Song, Hye-Kyung;Jeong, Jae-Hwan;Jeon, In-Ho;Yoon, Ho-Sung;Chung, Ki Wha;Won, Yong-Jin;Choi, Je-Yong;Kim, Un-Kyung
    • Molecules and Cells
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    • 제25권2호
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    • pp.301-304
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    • 2008
  • Microsatellites, short tandem repeats, are useful markers for genetic analysis because of their high frequency of occurrence over the genome, high information content due to variable repeat lengths, and ease of typing. To establish a panel of microsatellite markers useful for genetic studies of the Korean population, the allele frequencies and heterozygosities of 207 microsatellite markers in 119 unrelated Korean, Indian and Pakistani individuals were compared. The average heterozygosity of the Korean population was 0.71, similar to that of the Indian and Pakistani populations. More than 80% of the markers showed heterozygosity of over 0.6 and were valuable as genetic markers for genome-wide screening for disease susceptibility loci in these populations. To identify the allelic distributions of the multilocus genetic data from these microsatellite markers, the population structures were assessed by clustering. These markers supported, with the most probability, three clustering groups corresponding to the three geographical populations. When we assumed only two hypothetical clusters (K), the Korean population was separate from the others, suggesting a relatively deep divergence of the Korean population. The present 207 microsatellite markers appear to reflect the historical and geographical origins of the different populations as well as displaying a similar degree of variation to that seen in previously published genetic data. Thus, these markers will be useful as a reference for human genetic studies on Asians.

Distribution of HLA-DQA1*01, *03, *05 and DQB1*02 Subtypes and the Associated Haplotypes in the Korean Population

  • Pyo, Chul-Woo;Chung, Seo-Young;Hur, Seong-Suk;Kim, Hyoung-Jae;Choi, Jee-Yeoun;Kim, Yang-Kyum;Yoo, Ha-Jung;Choi, Hee-Baeg;Kim, Tai-Gyu
    • IMMUNE NETWORK
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    • 제3권2호
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    • pp.103-109
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    • 2003
  • Background: As all HLA class II genes, the DQ genes show their polymorphic variation mainly in the second exon, which encodes the first extracellular domain of the molecule. PCR-SSOP (Polymerase chain reaction-Sequence specific oligonucleotide probe) techniques were frequently used for HLA-DQA1 and DQB1 typing but certain alleles, $DQA1^*0101/0104/0105$, $^*302/0303$, $*0501/0505$ and $DQB1^*0201/^*0202$ which differ from each other in segment other than exon 2, could not be unequivocally assigned. Methods: To overcome this problem, we applied additional PCR-SSP (PCR-Sequence specific primer) method to analyze DQA1 exons 1, 3 and 4 and DQB1 exon 3. And we investigated the distributions and haplotypes of HLA-DRB1, DQA1 and DQB1 alleles in 406 unrelated Korean healthy individuals. Results: Using this method the indistinguishable alleles of DQA1 and DQB1 in PCR-SSOP were typed definitively. We also found several important associations between DQA1 and DQB1 alleles in the Korean population; $DQA1^*0101-DQB1^*0501$, $DQA1^*0104-DQB1^*0502$ or $-^*0503$, $DQA1^*0105-DQB1^*0501$, $DQA1^*0302-DQB1^*0303$, $DQA1^*0303-DQB1^*0401$ or $-^*0402$, $DQA1^*0501-DQB1^*0201$, $DQA1^*0505-DQB1^*0301$, and $DQA1^*0201-DQB1^*0202$. The haplotypes of DRB1-DQA1-DQB1 associated with $DQA1^*01$, $^*03$, $^*05$, and $DQB1^*02$ subtypes were investigated. Several haplotypes associated with these alleles were observed in the Korean population. Conclusion: Our results can be helpful to find potential unrelated donors for bone marrow registries and study the HLA-associated disease and anthropology at high-resolution allelic level.