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가계조사를 통한 한국인의 TAP 유전자의 다형성과 HLA-TAP 일배체형 분포에 관한 연구
황동희,박명희,Whang, Dong Hee,Park, Myoung Hee 대한면역학회 2002 Immune Network Vol.2 No.4
Background: TAP1 and TAP2 are two ABC transporter genes located within the class II region of the human MHC. Their protein products form a heterodimer whose function is to transport peptides from the cytoplasm into the endoplasmic reticulum. This study was performed to examine the polymorphism of TAP genes and the distribution of HLA-TAP haplotypes in the Korean population through family analysis. Methods: The subjects used in this study were 50 healthy Korean families consisting of 233 individuals. TAP1 (codons 333 and 637) and TAP2 (codons 379, 565, 577, 651, 665, and 687) typings were carried out by the PCR-restriction fragment length polymorphism (RFLP) method. HLA-DRB1 and DQB1 genotyping results from a previous study were used for HLA-TAP haplotype analysis. Results: The number (gene frequency) of TAP1 and TAP2 alleles detected were 3 for TAP1 (A 81.5%, B 17.0%, and C 1.5%) and 8 for TAP2 (A1 32.0%, A2 12.5%, B 34.0%, Bky2 6.5%, C 7.0%, D 3.0%, E 4.5%, and G 0.5%). Eleven TAP1-TAP2 haplotypes were observed with $frequency{\geq}1%$, among which 4 haplotypes (A-B, B-A1, A-Bky2, and C-E) showed weak but significant positive linkage disequilibrium (P<0.05). When DRB1-DQB1 haplotypes were extended to TAP1 and TAP2 loci, much diversification of haplotypes was observed: 19 different DRB1-DQB1 haplotypes formed 58 different haplotypes extended to TAP1 and TAP2 loci. These results add more evidence to the view that recombination hotspot is present within and around TAP gene region. Conclusion: The allele frequencies of TAP1 and TAP2 genes and the distribution of TAP1-TAP2 and HLA-TAP haplotypes were studied in Koreans based on a family study.
고희은 ( Hee Eun Ko ),황동희 ( Dong Hee Whang ),노지현 ( Ji Hyun Noh ),김용봉 ( Yong Bong Kim ) 대한산부인과학회 2006 Obstetrics & Gynecology Science Vol.49 No.7
Objective: Endometriosis is defined as the presence of endometrial tissue outside the uterus, causing diverse progressive diseases such as infertility, pelvic pain, and dysmenorrhea. Although the mechanisms responsible for its pathogenesis and progression remain poorly understood, it is well established that endometriosis grows and regresses in an estrogen-dependent fashion and that administration of progestin can relieve the symptoms caused by endometriosis. Some genetic studies have demonstrated the association between the estrogen or progesterone receptor gene polymorphism and the susceptibility to endometriosis. This study was designed to investigate the associations of the polymorphism of the progesterone receptor gene (PROGINS), PvuII and XbaI polymorphism of estrogen alpha receptor gene with endometriosis in the Korean population. Methods: A total of 100 women with surgically diagnosed and histologically confirmed endometriosis of stage III-IV were enrolled as a patient population and a total of 110 female control subjects undergoing health examination were enrolled as control population. Following isolation of genomic DNA from peripheral blood, polymerase chain reaction-sequence specific primer assays were performed for analyzing progesterone receptor gene polymorphism (PROGINS) and polymerase chain reaction-restriction fragment length polymorphism assays were performed for analyzing estrogen alpha receptor gene PvuII and XbaI polymorphism. The X2-test was used to compare genotype distributions between endometriosis and controls. Results: Only one patient in each group was found to be T1/T2 heterozygote, and the rest of the subjects were all T1/T1 homozygotes. Analysis of PvuII has shown that the significantly lower number of patients had (pp) genotypes and (p) alleles in the endometriosis group compared with the control group (32 (32%) vs. 50 (45.5%), P<0.05; 109 (54.5%) vs. 142 (64.5%), P<0.05, respectively). There was no difference in the genotype distribution or allele frequency in XbaI polymorphism between the endometriosis group and the control group. Conclusion: These results suggest that the PvuII polymorphism of the estrogen receptor-alpha gene is associated with the risk for endometriosis in the Korean population.
조소영,곽명옥,김정아,나현희,황동희,이홍기 仁濟大學校 白病院 2010 仁濟醫學 Vol.31 No.-
Aplastic anemia is one of the hematologic disease which is characterized by cytopenia in peripheral blood, hypocelluarity in bone marrow and marrow failure. Most common cause of aplastic anemia is unknown. Acquired causes of it are viral infection, drugs, and chemical agents. The symptoms of aplastic anemia are fatigue, headache, dizziness, exertional dyspnea, and pallor, and they are due to abrupt decrease in hemoglobin level. The incidence of acquired aplastic anemia is higher in Eastern population than Western. In geeral, men and women are affected with equal frequency, but the age distribution is biphasic, with the major peak in the teens and tweenties and a second rise in the elderly. We report a case of a 28-year-old man who experience aplastic anemia after ingestion of Cordyceps with the review of literatures.