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  • Title/Summary/Keyword: Genetic Association

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Relationship between SNP A and P1763 Polymorphisms on Dystrobrevin Binding Protein 1(DTNBP1) Gene and Smooth Pursuit Eye Movement(SPEM) Abnormality in Korean Schizophrenic Patients (한국인 정신분열병 환자의 안구추적운동 이상과 Dystrobrevin Binding Protein 1(DTNBP1) 유전자의 SNP A와 P1763 다형성의 연합에 대한 연구)

  • Lee, Chang Hee;Park, Byung-Lae;Kim, Lyoung Hyo;Kim, Dong Hyeon;Cho, Sook Hyun;Park, Jin-Soo;Kim, Im-Yel;Lee, In-Sang;Seo, Han-Gil;Byun, Ki-Ook;Kim, Bong-Jo;Hahn, Kyu-Hee;Kim, Ki-Hoon;Shin, Tae-Min;Shin, Hyung Doo;Woo, Sung-Il
    • Korean Journal of Biological Psychiatry
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    • v.13 no.4
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    • pp.279-288
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    • 2006
  • Objectives : We investigated the association of SNP A and P1763 polymorphisms on dystrobrevin binding protein 1(DTNBP1) gene with smooth pursuit eye movement(SPEM) abnormality in Korean schizophrenic patients. Methods : We measured SPEM function in 217 Korean schizophrenics(male 116, female 101) and divided them into two groups, one is a good SPEM function group and the other is a poor SPEM function group. We then analyzed SNP A polymorphism and P1763 polymorphism on DTNBP1 gene from their DNAs extracted from their blood. We compared the differences of genotype and allele distributions of the two polymorphisms on DTNBP1 gene between the two groups. Results : The Ln S/N ratio(mean±SD) of the good SPEM function group was 4.39±0.33 and the ratio of poor SPEM function group was 3.17±0.71. There were no statistically significant differences of age and male/female ratio between the two groups. There were no significant differences of genotype or allele distributions of the SNP A polymorphism and P1763 polymorphism on DTNBP1 gene between the two schizophrenic groups divided by SPEM function. Conclusion : The results suggest that SNP A polymorphism and P1763 polymorphism on DTNBP1 gene might not be related to SPEM function abnormality in schizophrenia.

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Prognostication by Cluster Analysis of COX-2, MMP-9 and P53 Expression and by Clinico-pathologic Correlation Analysis in Non-small Cell Lung Cancer (비소세포폐암에서 COX-2,MMP-9와 돌연변이형 p53 의 발현이 생존에 대한 예후 분석)

  • Shin, Jong Wook;Choi, Jae Ho;Park, In Won;Yoo, Jae Hyung
    • Tuberculosis and Respiratory Diseases
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    • v.63 no.1
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    • pp.31-41
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    • 2007
  • Background: In pathogenesis and prognosis of lung cancer, significance of enormous types of genetic expression were very compounding and undetermined. We performed this study to search association between clinical characteristics and expression of COX-2, MMP-9 and p53 in non-small cell lung cancer. Methods: Ninety-one patients with adenocarcinoma or squamous cell carcinoma were enrolled. We had searched clinical data retrospectively and performed immunohistochemical staining for COX-2, MMP-9 and p53. We had analyzed significance of these three genes in clinical features and prognosis for survival. Results: 1) In squamous cell carcinoma, male was predominant and was significantly correlated with smoking. 2) Major prognostic determinants for overall survival were curative resection. 3) Expression of COX-2 was more frequent in adenocarcinoma than in squamous cell carcinoma. 4) Negative staining of COX-2, MMP-9 and p53 was more frequent in squamous cell carcinoma than adenocarcinoma. 5) Survival duration was longer in the group with positive expression of p53 and negative for COX-2 and MMP-9 (median duration of survival = 165.6 weeks) than groups with the other expressional patterns. 6) Significant correlation was found between expression of MMP-9 and COX-2. In squamous cell carcinoma, expression of MMP-9, COX-2 and mutant p53 were mutually correlated. 7) COX-2 expression was significant prognostic factor for survival in resected cancer group. In unresected inoperable non-small cell lung cancer group, MMP-9 was statistically significant prognostic factor for overall survival. Conclusion: COX-2 and MMP-9 might have some roles for progression or prognosis in some selected patients with non-small cell lung cancer. COX-2 and MMP-9 may have some roles for disease progression or prognosis in selected patients with NSCLC.

The Relation between Microsatellite Instability and the Thymidylate Synthase Expression in Gastric Cancer (위암에서 Microsatellite Instability와 Thymidylate Synthase의 상관관계)

  • Ko, Hyun-Seok;Ahn, Chang-Wook;Kang, Hae-Youn;Kim, Kwang-Il;Hong, Sung-Pyo;Ahn, Dae-Ho
    • Journal of Gastric Cancer
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    • v.8 no.4
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    • pp.169-175
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    • 2008
  • Purpose: The main target of 5-fluorouracil (5-FU) is thymidylate synthase (TS). A high TS expression has been identified as promoting resistance to 5-FU. For colorectal cancers, the response to 5-FU based adjuvant chemotherapy is different according to the microsatellite instability (MSI) status. The reports on the relationship between MSI and the TS expression in colorectal cancer have been inconsistent. No data is available for gastric cancer regarding the relationship between MSI and the TS expression. Therefore, we studied the relationship between MSI and the TS expression in gastric cancer. Materials and Methods: Ninety-nine consecutive patients who underwent radical gastrectomy for gastric cancer from January 2004 to May 2006 at Bundang CHA hospital were studied. MSI was assessed for five markers (BAT25, BAT26, D2S123, D5S346, and D17S250) by PCR and with using an ABI prism 3100 Genetic analyzer. The TS expression was analyzed by immunohistochemistry with using mouse anti-thymidylate synthase monoclonal antibody to the TS 106 clone. Results: Out of the ninety-nine patients, MSS/MSI-L was detected in 92 (92.1%) cases and 7 cases (7.1%) were MSI-H. A negative TS expression was found in 46 (46.5%) cases, a low TS expression was found in 33 (33.3%) and a high TS expression was found in 20 (20.2%). Out of 92 MSS/MSI-L patients, the number of patients with negative, low and high TS expressions were 46 (50%), 30 (32.6%) and 16 (17.4%), respectively. Out of the 7 MSI-H patients, the number of patients with negative, low and high TS expressions were 0 (0%), 3 (42.9%) and 4 (57.1%), respectively. The relationship between MSI-H and a high TS expression was statistically significant. Conclusion: Gastric cancer with MSI-H showed higher levels of a TS expression compared to the gastric cancer with MSS/MSI-L.

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Polygenic Association of ACE and ACTN3 Polymorphisms with Korean Power Performance (ACE와 ACTN3의 다중유전형질과 근력운동 경기력간의 관계)

  • Kim, Chul-Hyun
    • Journal of Life Science
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    • v.22 no.3
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    • pp.398-406
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    • 2012
  • This study aimed to examine whether the polygenic profile of ACE ID and ACTN3 R577X polymorphisms is associated with muscle power performance in Korean athletes. For this study, 106 top-class power athletes (top-class group), 158 elite power athletes (elite-class group), and 676 healthy adults (control) aged 18-39 yrs were recruited and their genotypes were analyzed. The top-class group showed higher frequencies of the II genotype and I allele in ACE, as well as higher frequencies of the RR genotype and R allele in ACTN3 (top-class vs. control: 41.4% vs. 32.1% for II genotype, 67.1% vs. 57.7% for I allele, p<0.05; 42.3% vs. 29.0% for RR genotype, 65.3% vs. 54.8% for I allele, p<0.05). In the polygenic profile, the top-class group had significantly higher frequencies of combined-II/ID+RR/RX genotype than the control group (top-class vs. control: 82.9% vs. 66.7% for II/ID+RR/RX, p<0.05), and there was even a sharp increase in total genotype score (TGS) in this group compared to the elite-class and control groups (66±0.9 vs. 58±1.9 vs. 56±2.3, p<0.05). The combined-II/ID+RR/RX genotype showed the possibility of succussion in the top-class muscle power performance with an odds ratio of 2.3 (CI:1.4-4.1, p<0.05). These results suggested that ACE and ACTN3 need to interact with each other to affect muscle-power performance in an additive form. Furthermore, the polygenic profile of ACE and ACTN3 can predict muscle performance with high success in a homogeneous dominant combined genotype (II/ID+RR/RX). A further study could identify and combine other genes into ACE and ACTN3 for muscle strength.

Effects of Different Grazing Types of Hilly Pasture on Growth and Meat Quality in Organic Korean Black Goats (산지초지를 이용한 방목유형별이 유기흑염소의 발육과 육질에 미치는 영향)

  • HwangBo, S.;Choi, S.H.;Kim, S.W.;Son, D.S.;Jeon, B.S.;Lee, S.H.;Jo, I.H.
    • Korean Journal of Organic Agriculture
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    • v.16 no.3
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    • pp.309-320
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    • 2008
  • This study was conducted to determine the effects of different types of hilly pasture grazing on growth and meat quality in organic Korean black goats, and to obtain basic data for the production of organic goats. A total of 40 goats with similar age and BW were equally allocated to four dietary treatments in a randomized complete block design. Dietary treatments included grazing types of four different hilly pastures; T1: forages types, T2: organic forages types, T3: native plants types, and T4: browse types, respectively. The trial lasted for 174 days from 15th of May to 5th of November, 2007 in Livestock Genetic Resources Experiment Station, National Institute of Animal Sciences. At the end of trial, all animals were slaughtered to analyze carcass characteristics and meat quality. Average daily gain was significantly (p<0.05) higher for T1 treatments than for others. Dressing percentage was significantly (p<0.05) higher for T1 and T2 than for T3 and T4 treatments. Meat percentage of T1 treatments was significantly (p<0.05) higher than those of other treatments. For meat properties, crude fat content was highest in T3 treatments. Linoleate (18:2n6) and linolenate (18:3n3) contents tended to be higher in T1 than those of other treatments, while arachidonate (20:4n6) content tended to be higher in T3 and T4 than that of other treatments. Shear force was lower (p<0.05) for T3 than other treatments. For sensory results, juiciness and tenderness tended to be greater (p<0.05) in T2 and T3, and flavour tended to be greater (p<0.05) in T3 and T4. The results indicated that grazing in hilly pastures for organic Korean black goats was somewhat less in their performances and carcass characteristics, but not behind in the meat quality and physical characteristics as compared with the conventional regimen. Therefore, it would be expected that goats grazing in hilly pastures made it possible to produce organic animal products with a high safety and also might lead to increase of breeders income and consumers satisfaction.

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Clinical Characteristics of Arthrogryposis, Renal Tubular Dysfunction, Cholestasis(ARC) Syndrome in Korea (ARC(Arthrogryposis, Renal Tubular Dysfunction, Cholestasis) 증후군의 발병양상에 관한 연구)

  • Lee Soon Min;Kim Ji Hong;Lee Jae Seung;Han Suk Joo
    • Childhood Kidney Diseases
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    • v.9 no.2
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    • pp.222-230
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    • 2005
  • Purpose : ARC syndrome refers to an association of arthrogryposis, renal tubular dysfunction, and cholestasis. The VPS33B gene was recently identified as the causative gene. So far, 41 cases of ARC syndrome have been reported worldwide, and it has rarely been reported in Korea. This study was conducted to report the clinical findings of seven ARC syndrome cases in Korean children, focusing especially on renal tubular dysfunction. Methods : The hospital records of 7 cases diagnosed as ARC syndrome at Severance Hospital between Mar. 1995 and Aug. 2005 were reviewed and analyzed. Results : Of the 7 cases, 4 were boys and 3 were girls. Six patients(85%) were born with normal birth weight at term, and one was born at preterm. All cases presented with cholestasis and severe jaundice. According to the type of arthrogryposis described by Brown et al, type 3 and 4 were found in 2 patients and type,6, 7, and the undistributed type in one patient respectively. Other associated clinical findings were as follows : failure to thrive in 6(85%), lax skin in 5(71%), and gray platelet syndrome in 4(57%). Urine analysis revealed 6 cases(85%) with proteinuria, 3(43%) with hematuria, 5(71%) with glycosuria, 2(29%) with phosphaturia and 2(29%) with calciuria. Serum electrolytes showed 4 cases(57%) with hyponatremia, 3(43%) with hypokalemia, and 1(14%) with creatinine elevation. Renal tubular dysfunctions were diagnosed as renal tubular acidosis in 6 cases(85%), nephrogenic diabetes insipidus in 2(29%), and Fanconi syndrome in 2(29%). During the follow-up period, 2(29%) had no treatment, 5(85%) had continuous supplementation to correct the electrolyte imbalance and acidosis, and 1(14%) had dialysis. Only one patient had a family history of ARE syndrome in a sibling. Four cases(57%) were diagnosed at the mean age of 8.2 months, and one case was lost during follow-up. Ages of the survived 2 cases were 13 and 25 months, respectively. Conclusion : The rare disease of ARC syndrome Is associated with severe renal dysfunction. However, this study revealed that the renal manifestation of ARC syndrome in Korean children is relatively mild and survival rate is higher than that of previous studies. Contrary to previous reports, this study showed that familial cases are rare and sporadic occurence is possible in Korea. Thus, the diagnosis of this syndrome requires a careful evaluation of the venal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance. (J Korean Soc Pediatr Nephrol 2005;9:222-230)

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Studies on the Breeding of the Response to short photoperiod, Fiber weight, and Qualitative characters and of the Associations Among these characters in Kenaf (섬유용양마의 육종에 관한 연구 -단일반응성과 섬유종의 유전 및 연소)

  • Johng-Moon Park
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.4 no.1
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    • pp.115-124
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    • 1968
  • It was shown that the most desirable characters for kenaf are high-fiber weight and moderately early maturity. Therefore, the objectives of this research on this crop is to find varieties possessing these characteristics. The experiments covered in this report provided new information relative to segregation, mode of inheritance, estimate of the number of genes involved in fiber weight and their response to short day length of 10 hours and the qualitative characters, such as, color of stem, capsule, petiole and shape of leaves. The associations which exist among these characters are also indicated. Fiber weight per plant, days to flowering, Stem color, Petiole color, Capsule color, and shape of leaves were studied in parental, F1.F2and backcross populations of a cross between Dashkent, a low-fiber weight but early maturing kenaf variety, and G 38 F-1, a high-fiber weight but late maturing kenaf variety. Crosses were made using the varieties, Dashkent and G 38 F-1 as parents. The Dashkent parent had the following characteristics: green stems, capsules and petioles and lobed shaped leaves; 105.8234 mean-days to flowering in the field, and 106.9222 mean-days under 10 hours short day treatment. The other parent, G 38 F-1 had red stems yellow capsules and red petioles and unlobed shaped leaves; 149.8921 mean-days to flowering in the field, and 62.3684 mean-days under 10 hours short day treatment. Both of the parents, F1, F2, BC1 (F1 X Dashkent, ) and BC2(F1 × G38F-1) of the kenaf cross were grown at the Crops Experiment Station, Suwon, Korea in 1965. Color of stems, petioles and capsules, and shape of leaves were noted to be simply inherited as a single factor. Red stem color was dominant over green stem color, red petiole color was dominant over green petiole, lobed shaped leaves were dominant over unlobed shaped leaves and yellow capsules were dominant over green capsule. It was, also, noted that the factor for color of petiole was linked with the factor for shape of leaf with a 11.9587 percent recombination value, however no interaction or linkage were found among the color of stem and capsule color. Using Powers partitioning method, theoretical means and frequency distributions for each population, the days to flowering were calculated with the assumption that two gene pairs were involved. The values obtained fitted the theoretical values. In general this would indicate that Dashkent and G 38 F -1 were differentiated by two gene pairs. Heritability values were calculated as the percent of additive genetic variance. Heritability value of days to flowering, 89.5% in the broad sense and 79.91% in the narrow sense, indicated that the selection for this character would be effective in relatively early generations. Particularly, high positive correlations were found between days to flowering and the color of petioles and shape of leaves. However, there was no relation between days to flowering and capsule color nor between these and stem color. On the basis of the results of this experiment there is evidence that the hereditary factor for shape of leaves and the color of petioles is linked with an effective factor or factors for the characters of days to flowering. The association was sufficiently close to offer a possible simple and efficient means of selection for moderately early mat. uring plants by leaf shape and petiole color selection. Again using Powers partitioning method the frequency distribution for each population to the fiber weight were calculated with the assumption that two gene pairs, AaBb, were involved. Both phenotypic and genotypic dominance were complete. The obtained value did not agree with the theoretical value for F2 and BC1 (F1 × Dashkent.) It seems that Dashkent and G 38 F-1 were differentiated by two major gene pairs but some the other minor genes are necessary. It is certain that the hereditary factor for shape of leaves and color of petioles is linked with an effective factor or factors for fiber weight. Also, high. yielding plants with moderately early maturity were found in the F2 population. Thus, simultaneous selection for high-fiber yield and moderately early maturing plants should be possible in these populations. Phenotypic and genotypic correlation coefficients between fiber weight per plant and days to flowering, stem height and stem diameter were calculated. In general, genotypic correlations are higher than the phenotypic correlation. The highest correlation is found between stem height and fiber weight per plant (0.7852 in genotypic and 0.4103 in phenotypic) and between days to flowering and fiber weight per plant (0.7398 in genotypic and 0.3983 in phenotypic.) It was also expected that the selection of high stem height and moderately early maturing plants were given the efficient means of selection for high fiber weight.

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