• Title/Summary/Keyword: 군 유전체

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The Effect of Angiotensin Converting Enzyme Gene Polymorphism in Children with Henoch-Schonlein Purpura Nephritis (Henoch-Schonlein Purpura 신염에서 안지오텐신 전환효소 유전자 다형성의 영향)

  • Ha, Chang Woo;Kim, Ji Young;Lee, Jeong Nyeo;Lee, Jeong Hwa;Chung, Woo Yeong
    • Clinical and Experimental Pediatrics
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    • v.45 no.7
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    • pp.884-890
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    • 2002
  • Purpose : Henoch-Schonlein purpura(HSP) nephritis has been reported to vary from 25 to 50% among HSP patients and is a common cause of chronic glomerulonephritis in children. In our study, we evaluated the distribution and the association of the Insertion/Deletion(I/D) polymorphism of angiotensin converting enzyme(ACE) gene with clinical manifestations, particularly proteinuria in children with HSP nephritis, compared with that in HSP. Methods : ACE gene polymorphism was determined in children with HSP nephritis(n=33) and HSP(n=28) who were diagnosed in Busan Paik hospital from January 1996 to June 2001. The I/D polymorphism of ACE gene was determined by PCR amplication of genomic DNA. Results : The ACE I/D genotype frequency was DD : 25%, ID : 50%, II : 25% in HSP and DD : 24 %, ID : 46%, II : 30% in HSP nephritis, there was no significant difference in the genotype and allele frequencies between two groups. When statistical analysis was done according to the presence of D allele, the amount of 24-hour urinary protein excretion and the incidence of moderate to heavy proteinuria(>$500mg/m^2/day$) at onset and last follow-up were higher in DD/ID genotype than in those in II genotype, but these differences were not statistically significant. Conclusion : We suggest a lack of association between I/D polymorphism of ACE gene and clinical manifestations in children with HSP nephritis. However, further follow-up studies based on a sufficient number of patients and long term follow up periods are necessary to confirm the role of I/D polymorphism of ACE gene in children with HSP nephritis.

Biogenetical study on potential regulatory factors involved in expression of region III genes of Escherichia coli K99 adhesion gene cluster (대장균 K99섬모 유전자군중 제 3지역 발현에 관련된 조절자의 유전학적 연구)

  • Lee, John-Hwa;Baek, Byeong-Kirl;Kang, Chang-Won
    • Korean Journal of Veterinary Research
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    • v.42 no.4
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    • pp.505-512
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    • 2002
  • 대장균 K99 섬모의 생합성은 8개로 구성된 K99의 특이 유전자의 발현과 숙주유래 인자에 의해 조절되는 다른 유전자들의 발현에 의존된다. 본 연구에서는 K99섬모 유전자군중 제 3지역 발현에 유전조절자의 관련성 여부를 연구하였다. Gel retardation 분석 방법올 통하여 제3지역의 발현에 관련된 유전조절단위를 함유한 fanF 지역의 단백질 인자가 부착됨을 암시하였다. 이 분석방법을 이용한 결과는 또한 이 단백질 인자가 K99 유전자에서 유래되지 않고 대장균 염색체에서 유래됨을 지적하였다. 이를 보다 더 조사하기 위하여 대장균 염색체에 Tn10 transposon 유전자 변이 실험을 수행하였다. K99 유전자군으로부터 제 1지역과 제2지역의 유전자를 제거시키고, 제 3지역의 유전자인 fanG에 transposon TnlacZ를 삽입한 pTL65-1 plasmid을 제작하였다. 이 pTL65-1는 다시 Tn10으로 염색체가 변이된 대장균에 주입하였다. 3개의 pTL65-1 주입된 Tn10 대장균 변이체 내에서 fanG의 발현이 증가되었다. 이들 변이대장균으로부터 Tn10이 어떤 염색체 유전자 부위를 변이 시켰는지 확인하기 위해서 변이부위 유전자를 cloning하여 염기서열을 분석하였다. 이중 2개의 clone이 동일하였으며 지금까지 알려지지 않은 유전자였다. 이들 2개의 변이체 내에서 fanG의 발현은 대조군과 비교해 약 4.2배 증가 되였다. 결론적으로 이들 2개의 clone으로부터 유래된 인자는 지금까지 알려지지 않은 제 3지역의 억제 조절자임을 나타내었다.

The Functional and Genetic Defects of IFN-${\gamma}$ Receptor in the Patients with Tuberculosis (결핵환자에서 IFN-${\gamma}$ 수용체의 기능적 및 유전적 이상에 관한 연구)

  • Park, Gye-Young;Hwang, You-Jin;Lim, Young-Hee;An, Chang-Hyeok;Park, Jeong-Woong;Jeong, Seong-Hwan
    • Tuberculosis and Respiratory Diseases
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    • v.52 no.5
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    • pp.497-505
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    • 2002
  • Background : INF-${\gamma}$ plays an important role in the host response to a mycobacterial infection. A complete IFN-${\gamma}$ receptor 1 deficiency is a life threatening condition because it renders patients highly susceptible to a mycobacterial infection. Several mutations in the IFN-${\gamma}$ receptor and STAT1 gene have been identified in the rare mycobacterial infections. These mutations have partial function of the IFN-${\gamma}$ receptor and similar pathologic features to clinical tuberculosis. Materials and Methods : The function of the IFN-${\gamma}$ receptor was evaluated in the patients with clinical tuberculosis. In addition, the DNA coding sequence of the IFNgR1 and STAT1 gene was also analyzed in disseminated tuberculosis patients who might have a defective IFN-${\gamma}$ receptor. Results : The cell surface expression levels of HLA-DR and CD64 in the PMBC after being stimulation with IFN-${\gamma}$ (100IU/ml, 1000IU/ml) were increased in both controls and patients. However, the rate of increase in both groups was similar. The production of TNF-${\alpha}$ in the response to stimulation with LPS was higher in the both groups ($850.7{\pm}687.8$ vs. $836.7{\pm}564.3$ pg/ml). Pretreatment with IFN-${\gamma}$ prior to LPS stimulation resulted in further increase in TNF-${\alpha}$ production between both groups ($2203.5{\pm}242.5$ vs. $2227.5{\pm}560.4$ pg/ml). However, the rate of the increase in TNF-${\alpha}$ production in the both groups was similar. The known mutations in the IFNgR1 and STAT1 coding sequences were not found in the genomic DNA of patients with disseminated tuberculosis. Conclusion : The functional and genetic defects of the IFN-${\gamma}$ receptor were not identified in clinical tuberculosis. This suggests the defective IFN-${\gamma}$ receptor that predispoe patients to a BCG or NTM infection can not alone account for the cases of clinical tuberculosis.

Relationship between Alcohol Withdrawal Symptoms and Dopaminergic Gene Polymorphisms(DRD2, DAT, COMT) in Alcohol Dependence Patients (알코올 의존 환자의 금단 증상에 영향을 미치는 도파민계(DRD2, DAT, COMT) 유전자 다형성)

  • Choi, Tai Young;Kim, Ho-Nam;Han, Doug-Hyun;Min, Kyung-Jun;Lee, Young-Sik;Na, Chul
    • Korean Journal of Biological Psychiatry
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    • v.13 no.3
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    • pp.178-190
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    • 2006
  • Objectives : We investigated the relationship of the alcohol withdrawal symptoms with genetic polymorphism among alcohol dependence patients. Method : The measuring instruments used in this study were the Clinical Institute Withdrawal Assessment for Alcohol(CIWA-Ar). We analyzed DRD2 TaqI A polymorphism, dopamine transporter(DAT 1) polymorphism, and catechol-O-methyltransferase(COMT) polymorphism in 108 male alcoholics and 76 healthy controls. Results : The major findings was as follows. No significant differences for genotype distribution or allele frequency were revealed comparing controls and alcoholic patients. DRD2 Taq I : The subscale score of auditory hallucination among CIWA-Ar scale in homozygote was significantly higher than in heterozygote(OR=1.34). The total score of CIWA-Ar scale in heterozygote was significantly higher than in homozygote. DAT1 : In the subject without DAT-9 gene allele, it was significantly higher of the subscale score of sweating, anxiety among CIWA-Ar scale than in the subject with DAT-9 gene allele. And The total score of CIWA-Ar scale in the subject without DAT-9 gene allele was significantly higher than in the subject with DAT-9 gene allele. COMT : The total score of CIWA-Ar scale in heterozygote was significantly higher than in homozygote. Conclusion : Our results suggest the relationship between specific genetic factors and the withdrawal symptoms of alcohol dependent patients. As the candidate gene of the severity of alcohol withdrawal syndrome, DRD2 Taq1 gene was recommended.

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Linkage Analysis of both RAPD and I-SSR Markers using Haploid Genome from a Single Tree of Pinus densiflora S. et Z. (소나무 단일(單一) 모수(母樹)의 반수체(半數體) 게놈을 이용(利用)한 RAPD 및 I-SSR 표식자(標識子)의 연관분석(連關分析))

  • Hong, Yong-Pyo;Chung, Jae-Min;Kim, Yong-Yul;Jang, Suk-Seong
    • Journal of Korean Society of Forest Science
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    • v.89 no.4
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    • pp.536-542
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    • 2000
  • A linkage map for Japanese red pine (Pinus densiflora) was constructed on the basis of two DNA marker systems of random amplified polymorphic DNAs (RAPDs) and inter-simple sequence repeats (I-SSR). Haploid genomic DNAs were extracted from megagametophyte tissues of 96 individual seeds in a single tree. A total of 98 DNA markers including 52 RAPD markers amplified by 25 primers and 46 I-SSR markers amplified by 18 primers were verified as Mendelian loci showing 1 : 1 segregation in 96 megagametophytes which were ${\chi}^2$-tested at 5% significance level. Of them, 63 segregating loci turned out to be linked into 20 linkage groups by the two-point analysis. However, 35 loci (17 RAPD and 18 I-SSR) of the 98 segregating loci did not coalesced into any linkage groups at a LOD of 3.0. The linked 63 loci were separated by an average distance of about 25.5 cM, which were spanned 1097.8 cM as a whole. The minimum and maximum map distances of the linkage groups were 4.3 cM and 54.9 cM, respectively. Incorporation of I-SSR loi into linkage map of RAPD loci resulted in extended and partially more saturated linkage blocks.

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A Study on Genetic Nature of Korean Local Corn Lines (한국 재래종 옥수수의 유전적 특성)

  • ;Bong-Ho Chae
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.28 no.4
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    • pp.473-480
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    • 1983
  • To obtain basic information on the Korean local com lines a total of 57 lines were selected from 1,000 Korean local collection at Chungnam National University, and classified by principal component analysis, and genetic nature was investigated. There were a great variation in mean values of plant characters of the lines. The mean values of plant characters except for density of kernels varied with types of crossing. All characters except for tasselling dates were reduced in magnitude when selfed, while those characters were increased when topcrossed. The inbreeding depression varied with plant characters and lines. The characters such as yield, kernel weight per ear, ear weight and plant height showed great degree of inbreeding depression. Group I showed high inbreeding depression in such characters as 100 kernel weight, leaf number, plant height and days to tasselling, while group II showed high inbreeding depression in other plant characters. Heterosis of plant characters varied also with lines. The ear weight, kernel weight per ear, yield, 100 kernel weight, and plant height were some of the plant characters showing high heterosis. Group II showed high values of heterosis in such characters as ear length, ear diameter, ear weight, kernel weight per ear, 100 kernel weight and leaf length, while group I was high in heterosis in other plant characters. The degree of homozygosity was highest in ear weight (79.1%) and lowest in ear number per plant (-2.1%). Group II showed higher degree of homozygosity than group I. Correlation coefficients between characters of sibbed and topcrossed lines were positive for all characters. Highly significant correlation coefficients between sibbed and topcrossed lines were obtained especially for characters such as ear number per plant, plant height, leaf length and yield per plot.

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Genetic Variability of Pleurotus ostreatus Monospore Isolates by Random Amplified Polymorphic DNA Analysis (DNA 다형성 분석에 의한 느타리버섯 단포자 분리주의 유전적 변이성)

  • Song, Yeong-Jae;Jeong, Mi-Jeong;Kim, Beom-Gi;Rho, Yeong-Deok;Ryu, Jin-Chang;Yoo, Young-Bok
    • The Korean Journal of Mycology
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    • v.24 no.3 s.78
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    • pp.186-205
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    • 1996
  • This study was carried out to obtain data concerning the genetic variability of Pleurotus ostreatus. Monospores of P. ostreatus were isolated and cultured to estimate differences in the rate of mycelial growth and genetic similarity among the isolates. Although the overall growth rates were slow compared to their parental dikaryon except 2-MI 4, significant differences in the rate of mycelial growth were observed among isolates. Random amplified polymorphic DNA (RAPD) analysis using twenty six random primers showed 345 polymorphic DNA bands from 35 monospore isolates and their parental dikaryon. DNA bands ranged from 0.1 to 4.0 Kb in size. Most various polymorphic DNA bands within monospore isolates were obtained when we used J (OPA-01) or W (OPB-04). The 36-MI 103 showed totally different band patterns from those of the others. RAPD analysis revealed that there is approximatly 75% genetic similarity between monospore isolates and their parental dikaryon except 36-MI 103, which showed only 49% genetic similarity. In addition, genetic similarity degrees were classified into four groups: I (parental dikaryon), II (fast growing type), III (moderate growing type), and IV (slow growing type). However, there is no correlation between mating type and mycelial growth rates.

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Association Study Between Dopamine Transporter Gene 40 bp VNTR and Antipsychotics-Induced Restless Legs Syndrome (도파민 수송체 유전자 다형성과 항정신병약물로 유발된 하지불안증후군의 연관성 연구)

  • Kang, Seung-Gul;Lee, Heon-Jeong;Choi, Jung-Eun;Kim, Leen;Jung, In-Kwa
    • Sleep Medicine and Psychophysiology
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    • v.15 no.1
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    • pp.39-43
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    • 2008
  • Objectives: The pathophysiology of restless legs syndrome (RLS) is not obvious, but many promising theories involve dopaminergic deficiency and genetic causes. The RLS is presumed to occur more frequently among schizophrenic patients who take antipsychotics, most of which blocks the dopamine receptors. This study aimed to investigate whether dopamine transporter gene (DAT1) 40 base pair (bp) variable number of tandem repeat (VNTR) polymorphism is associated with the antipsychotic-induced RLS in schizophrenia. Methods: We determined the diagnosis of RLS among the 190 Korean schizophrenic patients by the diagnostic criteria of the International Restless Legs Syndrome Study Group (IRLSSG). Genotyping was performed for the 40bp VNTR in DAT1 gene using polymerase chain reaction. Results: We separated the schizophrenic patients into 44 patients with RLS and 146 patients without RLS. The genotype and allele frequencies did not differ significantly between two groups. Conclusions: These results suggest that DAT1 gene 40bp VNTR is not associated with the antipsychotic-induced RLS in schizophrenia. To confirm these results, larger-scale association study is needed in the future.

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A Study on the Association of Thin Glomerular Basement Membrane Abnormality with Minimal Change Nephrotic Syndrome (사구체 기저막 비박화 소견을 보인 미세변화 신증후군에 관한 고찰)

  • Kim, Chang-Woo;Cho, Min-Hyun;Ko, Cheol-Woo;Koo, Ja-Hoon;Kwak, Jung-Sik
    • Childhood Kidney Diseases
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    • v.6 no.1
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    • pp.48-55
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    • 2002
  • Purpose: Thin glomerular basement membrane nephropathy (TGBMN) is recognized as the leading cause of microscopic hematuria in both children and adults. However thinning of glomerular basement membrane (TCBM) has been found in healthy adult and also is known to be associated with various renal diseases such as Alport syndronh, IgA nephropathy and mesangial proliferative glomerulonephritis. The association of TGBM with minimal change nephrotic syndrome (MCNS) has been very rare so that the present study was undertaken to determine the relationship between TGBM and MCNS. Methods: The study population consisted of 49 children with biopsy- proven MCNS who have been admitted to the pediatric department of Kyungpook University Hospital during the past 5 years from 1997 to 2001. Group I consisted of 8 children associated with TGBM and Group II 41 children without TCBM. Various parameters such as age of illness, duration from discovery of illness to the time of biopsy, family history of hematuria and other laboratory tests were compared between these two groups and the following results were obtained. Results: Age distribution showed slightly older age in Group I ($7.1{\pm}3.5$ years) compared to Group II ($4.8{\pm}2.9$ years). However this was not statistically different (P=0.056). Family history of hematuria was noted in 2 cases in Group II. Though statistically not significant, hematuria was seen in 2 out of 8 cases ($25\%$) in MCNS children with TGBM, compared to 7 out of 41 cases ($17\%$) with MCNS children without TGBM. Other parameters such as BUN, creatinine, 24 hours urine protein excretion, serum protein, albumin, cholesterol, and T4/T8 ratio, showed no difference. Also renal biopsy finding showed no significant difference and the thickness of glomerular basement membrane in Croup I was $188{\pm}30nm$. Conclusion: TGBM was found in 8 out of 49 children with MCNS ($16.3\%$). And this high frequency of occurrence indicates that these association is not an incidental findings. Typical clinical findings of TCBMN was not noted in all of the 8 children with MCNS associated with TGBM, suggesting that thinning of glomerular basement membrane (TCBN) is secondary to rather than the cause of MCNS. (J Korean Soc Pediatr Nephrol 2002;6: 48-55)

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Intergeneric Transfer of Isolated Nuclei from Lentinus edodes into Protoplasts of Pleurotus florida (사철느타리버섯 원형질체내에 표고 핵의 전이)

  • Yoo, Young-Bok;Shin, Pyung-Gyun
    • The Korean Journal of Mycology
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    • v.24 no.2 s.77
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    • pp.111-126
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    • 1996
  • Transfer of the isolated nuclei from Lentinus edodes into protoplasts of Pleurotus florida was induced with polyethlene glycol (PEG) and $CaCl_2$. The intergeneric transfer products were classified into nuclear hybrid, heterokaryon or synkaryon, and reconstituted cell. These progenies except nuclear hybrids formed mature fruiting bodies on sawdust rice bran medium. Formation of fruit bodies was influenced by several factors such as light, temperature, nutrition and physic state of the culture media. Most of fruiting body characters were similar to those of P. florida in synkaryon and L. edodes in reconstituted cell, respectively. All these basidiocarps had clamp connections though initial heterokaryon colonies were lacking. Isozyme patterns of intergeneric progenies were quite different from those of parents. DNA polymorphisms of transfer products were also compared by random amplified polymorphic DNAs (RAPD) analysis based on polymerase chain reaction. The RAPD patterns were different from those of donor and recipient. DNA fingerprints ranged in size from 0.25 to 4.0 Kb. On the basis of RAPD, the transfer products were classified into five groups. Two synkaryon were analysed with distribution of progenies and segregation of genetic markers by random spore analyses. The genetic markers were segregated into wild type and riboflavine requiring auxotrophs.

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