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한국인 정신분열병과 HLA-DRB1 대립유전자의 관련성
황나영,김종원,오흥범,조지희,오선영,홍진표,박종익,이동은 大韓神經精神醫學會 2000 신경정신의학 Vol.39 No.5
연구목적: 유전이 정신분열병의 중요한 원인이라는 것은 널리 인정되어 왔다. 본 연구는 한국인 정신분열병과HLA-DRB1 유전자좌와의 관련성을 알아보고 외국인 대상의 보고들과 비교함으로써 한국인 정신분열병의 유전적 특성을 밝히고자 시행하였다. 방법: 정신분열병 환자 70명을 대상으로 HLA-DRB1 대립유전자를 고해상도 수준까지 분석하였다. 저해상도 수준의 HLA-DR결과는 정상 한국인 2,000명의 연구 보고와 비교하였으며 고해상도 수준의 HLA-DRB1 결과는 정상 한국인 229명의 연구 보고와 비교하였다. 결과: 저해상도 수준에서는 HLA-DR11이 정신분열병 환자군에서 9.0%, 정산인에서는 3.8%의 빈도를 보여 환자군에서 통계적으로 유의하게 높은 빈도를 보였으며(p=0.005), 고해상도 수준에서는 HLA-DRB1*1101이 환자군에서 9.0%로 정상인의 1.8%보다 유의하게 높은 빈도를 보였다(p<0.001). 결론: 본 연구에서는 한국인 정신분열병과 HLA-DR11(HLA-DRB1*1101)이 양적 상관관계를 보여 백인에서 DR4와 부정적 상관관계를 보인 결과나 일본인에서 DR1(DRB1*0101)과 양적 상관관계를 보인 결과와 상이하였다. 이러한 한국인 정신분열병 환자의 유전적 특성은 가족연구 혹은 더 많은 수의 환자를 대상으로 한 관련연구를 통하여 재확인되어야 할 것이다. 중심단어:정신분열병·HLA-DRB1·관련연구. Objective: A genetic predisposition is widely accepted in schizophrenia. This study was intended to fine any association of HLA-DRB1 alleles with korean schizophrenics and thereby compare the results of other ethni groups. Method: The subjects were 70 unrelated Korean patients. Low and high resolution typing of HLA-DRB1 alleles were performed. The comparison groups were 2,000 unrelated healthy Koreans for low resolution HLA-DR and 229 unrelated healthy Koreans for HLA-DRB1 alleles. Results: Gene frequencies of HLA-DR11(patients 9.0%, healthy control 3.8%, p=0.005) and HLA-DRB1*1101(patients 9.0%, healthy control 1.8%, p<0.001) were significantly higher in Korean schizophrenics. Conclusion: The frequency of HLA-DR11(HLA-DRB1*1101) is significantly higher in Korean schizophrenics than in healthy Koreans. HLA-DR4 and HLA-DR1, which were known to be associated with Caucasian and Japanese schizophrenics, respectively, did not show statistical association with Korean schizophrenics. This association need to be reassured though further studies with families or association study with larger numbers of subjects. KEY WORDS:Schizophrenia·HLA-DRB1·Association study.
X-관련성 만성육아종성질환의 진단을 위한 PMA-activated NBT 검사
김중곤,조한익,오흥범,김의종,최강원 대한감염학회 1996 감염 Vol.28 No.1
목적 : Activated NBT 검사는 만성육아종성질환을 선별하는 검사이다. 활성제로 PMA를 사용하면 X-linked CGD의 경우 보인자를 감별할 수 있다. 방법 : CGD의 가족력을 부인하는 정상인 30명을 대상으로 PMA activated NBT 슬라이드 검사를 실시하여, 정상대조에서의 formazan 형성율을 보았으며, 동일 검사를 CGD가 강력히 의심되는 환자와 그 가족에 대하여 실시하였다. 결과 : 정상대조 30명 전원에서 98% 이상의 formazan 형성세포가 관찰되었다. 환자에게 실시한 결과 세환자 모두에서 0%의 결과를 보였다. 환자의 어머니에서는 각각 57, 70, 67%의 결과를 보였다. 결론 : 본 연구를 통하여 세 환자는 X-관련성 만성육아종성질환이라는 진단을 내릴 수 있었다. PMA activated NBT 슬라이드 검사는 시행하기가 쉽고 재현성이 좋으므로, 어러 검사실에서 소아기 면역결핍증을 선별하는 검사의 하나로 시행되는게 바람직하다고 사료된다. Background : Chronic granulomatous disease(CGD) is uncommon inherited disorder in which phagocytic cells fail to produce antimicrobial superoxide(O₂) due to NADPH oxidase deficiency. This disease can be easily screened by activated nitroblue tetrazolium(NBT) test. In case of X-linked CGD, carriers also can be detected. Methods : PMA(phorbol myristate acetate) activated NBT test was performed as previously described. Test performance was evaluated in 30 normal persons who denied family history mimicking CGD. Test was also applied to the three strongly suspected cases of CGD. Two of the cases were 12 year old boy and 7 year old boy, who suffered from many infectious diseases since 6 month old and 4 month old, respectively. The other remaining case was 22 year old man who suffered from many infectious diseases since 6 year old, but now relatively in health compared to the other two cases. Results : More than 98% formazan formation was observed in all normal controls. No formazan positive cell was shown in all of the three patients. However, applied to the mothers, the test revealed 57%, 70%, 67% positive cells, respectively. Conclusion:X-linked transmission of CGD could be determined with the results of PMA activated NBT slide test. This test can be easily performed. It would be better to do this test routinely as one of the tests for the screening of the immmunodeficiency syndrome in childhood.
Oh, Heung-Bum,Kim, Soo-Ok,Cha, Choong-Hwan,Hong, Sun Pyo,Folk, William R.,Kim, Kang Mo,Suh, Dong Jin Wiley Subscription Services, Inc., A Wiley Company 2008 Journal of medical virology Vol.80 No.10
<P>Previous surveys of the prevalence of hepatitis C virus (HCV) in Korea have identified types 1 and 2, but little has been said of other genotypes and viral subtypes. In this study, HCV genotypes in Korea were investigated using Restriction Fragment Mass Polymorphism (RFMP) assay, a sensitive and specific method for genotyping based on MALDI-TOF mass spectrometry. A total of 1,043 independent serum samples from HCV-infected patients were analyzed. Of interest, 15 subjects (1.4%) were determined to contain HCV genotype 6 and 46 subjects (4.4%) contained mixed genotypes with the most prevalent genotypes being HCV 1b and 2a/c (45.0% and 35.4%, respectively). The 15 subjects with HCV genotype 6 comprised eight cases of subtype 6c, including one case of mixed infection with 1b, three cases of HCV 6a, and six cases of unassigned subtypes. Sequencing corroborated the identity of genotype 6 from 13 subjects, while the line probe assay (LiPA) mis-identified them as genotype 1b. The majority (7/9) of the genotype 6 patients enrolled for interferon/ribavirin therapy, achieved a sustained virologic response. The ability of the RFMP assay to differentiate various HCV genotypes should enable better analysis of the relationship between HCV genotype and disease prognosis. J. Med. Virol. 80:1712–1719, 2008. © 2008 Wiley-Liss, Inc.</P>
Oh, Heung-Kwon,Lee, Hye Seung,Lee, Jin Ho,Oh, Se Heang,Lim, Jae-Young,Ahn, Soyeon,Hwang, Ji-Yeon,Kang, Sung-Bum Lippincott 2015 Diseases of the colon and rectum Vol.58 No.5
<P>Injection of bulking agents into the anal canal is limited by several factors, including biological resorption, particle migration, and ongoing degradation of the injected bulking agent.</P>
Oh, Heung-Kwon,Lee, Hye Seung,Lee, Jin Ho,Oh, Se Heang,Lim, Jae-Young,Ahn, Soyeon,Kang, Sung-Bum Springer International ; Springer-Verlag, distribu 2015 International journal of colorectal disease Vol.30 No.4
<P>Basic fibroblastic growth factor (bFGF), a member of the heparin-binding growth factor family, regulates muscle differentiation. We investigated whether coadministration of autologous myoblasts and bFGF-loaded polycaprolactone beads could improve sphincter recovery in a dog model of fecal incontinence (FI). FI was induced by resecting 25 % of the posterior anal sphincter in ten mongrel dogs. One month later, the dogs were randomized to receive either PKH-26-labeled autologous myoblasts alone (M group, five dogs) or autologous myoblasts and bFGF-loaded polycaprolactone beads (MBG group, five dogs). The outcomes included anal manometry, compound muscle action potentials (CMAPs) of the pudendal nerve, and histology. The increase in anal contractile pressure over 3 months was significantly greater in the MBG group (from 4.85 to 6.83 mmHg) than that in the M group (from 4.94 to 4.25 mmHg), with a coefficient for the difference in recovery rate of 2.672 (95 % confidence interval [CI] 0.962 to 4.373, p = 0.002). The change in the CMAP amplitude was also significantly greater in the MBG group (from 0.59 to 1.56 mV) than that in the M group (from 0.81 to 0.67 mV) (coefficient 1.114, 95 % CI 0.43 to 1.80, p = 0.001). Labeled cells were detected in 2/5 (40 %) and 5/5 (100 %) dogs in the M and MBG groups, respectively. Coadministration of bFGF-loaded PCL beads and autologous myoblasts improved the recovery of sphincter function in a dog model of FI and had better outcomes than cell-based therapy alone.</P>
Park, Heung-Woo,Lee, Jong-Eun,Shin, Eun-Soon,Lee, Jae-Young,Bahn, Joon-Woo,Oh, Heung-Bum,Oh, Sun-Young,Cho, Sang-Heon,Moon, Hee-Bum,Min, Kyung-Up,Elias, Jack A.,Kim, You-Young,Kim, Yoon-Keun Elsevier 2006 The journal of allergy and clinical immunology Vol.117 No.4
<P><B>Background</B></P><P>Vascular endothelial growth factor (VEGF) has been suggested to be a key mediator in the development of atopy and T<SUB>H</SUB>2 inflammation.</P><P><B>Objective</B></P><P>We sought to evaluate the effects of variations in the gene coding VEGF receptor (VEGFR) 2 on intermediate phenotypes of asthma in the Korean population.</P><P><B>Methods</B></P><P>A cohort of 2055 children and adolescents responded to a questionnaire concerning asthma symptoms and risk factors and underwent methacholine bronchial challenge and skin tests. The <I>VEGFR2</I> gene, including the promoter area, was sequenced on 24 healthy subjects to discover informative single nucleotide polymorphisms (SNPs; minor allele frequency >2%). After haplotype reconstruction, 4 tagging SNPs (IVS6+54A>G, +889G>A, +1416T>A, and IVS25-92G>A) were scored. These SNPs were also scored in 480 adult asthmatic patients to verify the above genetic association study.</P><P><B>Results</B></P><P>The prevalence of atopy was associated with a single SNP (+889G>A) of VEGFR2 with borderline significance (<I>P</I> = .048; relative risk, 1.13; 95% CI, 1.00-1.28). However, haplotype analysis showed that the atopy prevalence was strongly associated with a haplotype (AGAG) of VEGFR2 (<I>P</I> = .002; relative risk, 1.25; 95% CI, 1.09-1.42). As for airway hyperresponsiveness, neither individual SNPs nor haplotypes were found to be associated. Interestingly, the significant association was also found between atopy and the AGAG haplotype among adult asthmatic patients (<I>P</I> = .008; odds ratio, 1.66; 95% CI, 1.14-2.44).</P><P><B>Conclusions</B></P><P>The present study demonstrated that genetic variations of VEGFR2 are significantly associated with atopy in the Korean population.</P>