• Title/Summary/Keyword: Population genetic

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Clinical Significance of the NQO1 C609T Polymorphism in Non Small Cell Lung Adenocarcinoma Patients

  • Masroor, Mirza;Jain, Amit;Javid, Jamsheed;Mir, Rashid;Prashant, Y;Imtiyaz, A;Mariyam, Z;Mohan, Anant;Ray, PC;Saxena, Alpana
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.17
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    • pp.7653-7658
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    • 2015
  • Background: NAD(P)H:quinone oxidoreductase 1 (NQO1) is part of the antioxidant defence system involved in detoxification. This study aimed to analyze the influence of NQO1 (C609T) genetic polymorphism in non small cell lung cancer (NSCLC)as a putative risk factor. Materials and Methods: Present study included 100 cases of NSCLC (adenocarcinoma) patients and 100 age and sex matched healthy controls. NQO1 (C609T) genotyping was performed by allele specific PCR for assessment of putative associations with clinical outcome and genotypes of. The association of the polymorphism with the survival of NSCLC patients' was analyzed by Kaplan-Meier method. Results: In Indian NSCLC (adenocarcinoma) patients increased risk of developing NSCLC was found to be associated with NQO1 609TT genotype [OR 3.68(0.90-14.98), RR 2.04(0.78-5.31)] for CT [OR 2.91(1.58-5.34), RR 1.74(1.23-2.44) p=0.0005 for CT], for CT+TT [ OR 3.26(1.82-5.82), RR 1.87(1.34-2.61) p<0.0001 for CT+TT]. A significant difference (p=0.0009) was observed in genotype distribution among cases and healthy controls. Patients with CT+TT genotype exhibited a significant poor overall survival compared with patients displaying homozygous CC genotype (p=0.03) and when survival independently compared with CC, TT and CT genotype was also found to be significantly associated (p=0.02). Overall median survival times were CT 6.0 months, TT 8.2 months, and CT + TT (6.4 months)]. Conclusions: The present study revealed that NQO1 CT, TT and CT+TT genotypes may be associated with clinical outcome and risk of developing NSCLC in the Indian population.

Studies on the Selection Response of Generation for Egg Production in Single Comb Leghorn (백색 레그혼종 순종계통의 산란능력에 있어서 세대별 선발반응에 관한 연구)

  • 이학교;최철환;박무균;이수헌;박태진
    • Korean Journal of Poultry Science
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    • v.19 no.4
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    • pp.187-195
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    • 1992
  • This study carried out to investigate selection response of pure line population of layer chicken. Data for two layer pure line of Single Comb White Leghorn were collected from 1986 to 1991. Primary selection criteria were egg number to 270 days of age (EN270), egg weight(BW270), body weight (BW270) at 270 days of age and the days of the 1st egg(SM). The results obtained in this study are summarized as follows ; 1. Mean phenotypic values of two strains were decreased by 1.94 day(K), 1.320ay(F) for SM and increased by 0.09g(K), -0.05g(F) for EW 270 and 0.56(K), -0.78(F) for EN270. 2. The ratio of a realized selection differential to expected selection differentials for SM (sexual maturity), EW 270, and BW 270 were not significantly decreased during 5 generations. 3. Heritability were estimated from sib analysis. The means of estimates were 0.28(F), 0.39(K) for BW270, and 0.25(F), 0.29(K) for EN270 and 0.51(F), 0.48(K) for EW270. 4. The genetic gains were estimated by method of selection index in retrospect on the basis of selection differentials. EN270 and EW270 were found to increase by 2.01(F), 2.25(K) and 0.54 (F), 0.65(K) per generation.

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ORTHODONTIC TRACTION OF A TRANSPOSED IMPACTED MAXILLARY CANINE OF A DOWN SYNDROME PATIENT WITH CONGENITAL HEART DISEASE (심장질환이 있는 Down 증후군 환자의 전위 매복 치아 교정 치료 증례 보고)

  • Lee, Hyon Joo;Shin, Teo-Jeon;Hyun, Hong-Keun;Kim, Young-Jae;Kim, Jung-Wook;Jang, Ki-Taeg;Lee, Sang-Hoon;Kim, Chong-Chul
    • The Journal of Korea Assosiation for Disability and Oral Health
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    • v.8 no.2
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    • pp.118-121
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    • 2012
  • Down syndrome (DS) is a genetic disease known as trisomy 21. Congenital cardiac anomalies are present in about 40% of DS patients. Dental anomalies are also common among DS patients. In DS patients, canine impaction is 10 times more frequent and transposition of maxillary canine and first premolar is 50 times more common than in general population. A female DS patient with congenital heart disease was diagnosed as having a transposed impacted maxillary canine. Sectional fixed appliance with Nance holding arch was used for the orthodontic treatment. After space was regained for the eruption of the canine, orthodontic button was attached using flap operation with closed technique. Traction and alignment of the tooth followed. To prevent endocarditis, prophylactic antibiotics were prescribed for the recommended dental procedures. Total treatment time was 25 months and no complication was found.

Analyzing the Effect of Argumentation Program for Improving Teachers' Conceptions of Evolution (교사들의 진화 개념 이해 향상을 위한 논변활동 프로그램 효과 분석)

  • Kwon, Jieun;Cha, Heeyoung
    • Journal of The Korean Association For Science Education
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    • v.35 no.4
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    • pp.691-707
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    • 2015
  • This study aims to develop biology teachers' education program based on argumentation activity about core concepts of evolution and to analyze the characteristics of core concepts of evolution learned during the program. The eight core concepts of evolution in this study were variation, heritability of variation, competition, natural selection, adaptation, differential reproductive rate of individuals, changes in genetic pool within a population, and macroevolution. The performances of teachers participating in the program were compared before and after argumentation activities; consisting of seven sessions on the eight core concepts of evolution. The process of the program was specially designed by learning cycle model for teacher education, consisting of seven phases: identification of the task, production of a tentative argument, small group's written argument, share arguments with the other groups, reflective discussion, final written argument, and organization by an instructor. Participants in the study were two pre-service biology teachers and four in-service biology teachers. The results suggest that biology teachers reduced the teleological explanation for biological evolution and improve its adequacy after the intervention. Teachers lacked the opportunity to discuss variation, heritability of variation, competition, and macroevolution because science textbooks lack information on the concepts of biological evolution. The results of this study suggest that because the argumentation program developed for teachers helps to improve understanding the concepts of evolution and to reduce inadequate conceptions in biology, teacher education programs using argumentation activity and eight core concepts of evolution will play a role for efficient evolution education for biology teachers.

Estimation of Protein Deposition Rate of Growing-Finishing Pigs Reared in Commercial Conditions in Korea

  • Kim, J.H.;Sohn, K.S.;Hynn, Y.;Han, In K.
    • Asian-Australasian Journal of Animal Sciences
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    • v.13 no.8
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    • pp.1147-1153
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    • 2000
  • A total of 9,540 pigs were evaluated for their growth performance to provide information on the development of different feeding strategies to support maximum rate of protein deposition (PD). Large variations in growth performance and protein deposition rate were found in the population used in this study (ADG from 701 to 974 g/day; ADFI from 1,726 to 2,498 g/day; Feed/gain from 2.10 to 2.90; Backfat thickness from 12.4 to 20.5 mm and PD rate from 103 to 153 g/day). It was found that ADG was positively correlated to PD ($R^2=0.9362$, p<0.0001) while FCR was negatively correlated to PD ($R^2=0.4031$, p<0.0001). Backfat thickness was negatively correlated to PD ($R^2=0.7024$, p<0.0001) and to ADG ($R^2=0.5096$, p<0.0001). The estimated lysine requirement based on PD rate also showed large variation (12.37 to 18.38 g/day true ileal digestible lysine on average between 25 and 100 kg), thus strongly indicated the need of separate feeding strategies for each group of pigs. When pigs were divided into three categories according to estimated whole body PD rate, the group of pigs with the highest PD rate grew faster by 6.3 and 13.9% than pigs with intermediate and low PD rate, respectively. Feed utilization was also more efficient in pigs with a high PD rate. It appeared that pigs with high PD rate maintained higher PD rate especially in the later stage of their life. Pigs with high PD rate require an extra amount of 1.2 and 2.4 g/true digestible lysine per day and 0.4 and 0.8% more lysine in the diet than pigs with intermediate and low PD rate during the growing-finishing period respectively. Results of this study suggest that there is a need for separate feeding strategies for individual group of pigs with different PD rate. It should be noted that average value for each group presented in this report is not the adequate amount for an animals potential for maximum PD rate. With recent development in growth modeling and access to computer technologies to facilitate computation, pork producers can easily estimate pigs protein deposition rate and thus can make their own feeding strategies.

Novel Polymorphisms of Adrenergic, Alpha-1B-, Receptor and Peroxisome Proliferator-activated Receptor Gamma, Coactivator 1 Beta Genes and Their Association with Egg Production Traits in Local Chinese Dagu Hens

  • Mu, F.;Jing, Y.;Qin, N.;Zhu, H.Y.;Liu, D.H.;Yuan, S.G.;Xu, R.F.
    • Asian-Australasian Journal of Animal Sciences
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    • v.29 no.9
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    • pp.1256-1264
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    • 2016
  • Adrenergic, alpha-1B-, receptor (ADRA1B) and peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B) genes are involved in regulation of hen ovarian development. In this study, these two genes were investigated as possible molecular markers associated with hen-housed egg production, egg weight (EW) and body weight in Chinese Dagu hens. Samples were analyzed using the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique, followed by sequencing analysis. Two novel single nucleotide polymorphisms (SNPs) were identified within the candidate genes. Among them, an A/G transition at base position 1915 in exon 2 of ADRA1B gene and a T/C mutation at base position 6146 in the 3'- untranslated region (UTR) of PPARGC1B gene were found to be polymorphic and named SNP A1915G and T6146C, respectively. The SNP A1915G (ADRA1B) leads to a non-synonymous substitution (aspartic acid 489-to-glycine). The 360 birds from the Dagu population were divided into genotypes AA and AG, allele A was found to be present at a higher frequency. Furthermore, the AG genotype correlated with significantly higher hen-housed egg production (HHEP) at 30, 43, 57, and 66 wks of age and with a higher EW at 30 and 43 wks (p<0.05). For the SNP T6146C (PPARGC1B), the hens were typed into TT and TC genotypes, with the T allele shown to be dominant. The TC genotype was also markedly correlated with higher HHEP at 57 and 66 wks of age and EW at 30 and 43 wks (p<0.05). Moreover, four haplotypes were reconstructed based on these two SNPs, with the AGTC haplotype found to be associated with the highest HHEP at 30 to 66 wks of age and with higher EW at 30 and 43 wks (p<0.05). Collectively, the two SNPs identified in this study might be used as potential genetic molecular markers favorable in the improvement of egg productivity in chicken breeding.

A Whole Genome Association Study on Meat Quality Traits Using High Density SNP Chips in a Cross between Korean Native Pig and Landrace

  • Lee, K.T.;Lee, Y.M.;Alam, M.;Choi, B.H.;Park, M.R.;Kim, K.S.;Kim, T.H.;Kim, Jong-Joo
    • Asian-Australasian Journal of Animal Sciences
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    • v.25 no.11
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    • pp.1529-1539
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    • 2012
  • A whole genome association (WGA) study was performed to detect significant polymorphisms for meat quality traits in an $F_2$ cross population (N = 478) that were generated with Korean native pig sires and Landrace dams in National Livestock Research Institute, Songwhan, Korea. The animals were genotyped using Illumina porcine 60k SNP beadchips, in which a set of 46,865 SNPs were available for the WGA analyses on ten carcass quality traits; live weight, crude protein, crude lipids, crude ash, water holding capacity, drip loss, shear force, CIE L, CIE a and CIE b. Phenotypes were regressed on additive and dominance effects for each SNP using a simple linear regression model, after adjusting for sex, sire and slaughter stage as fixed effects. With the significant SNPs for each trait (p<0.001), a stepwise regression procedure was applied to determine the best set of SNPs with the additive and/or dominance effects. A total of 106 SNPs, or quantitative trait loci (QTL) were detected, and about 32 to 66% of the total phenotypic variation was explained by the significant SNPs for each trait. The QTL were identified in most porcine chromosomes (SSCs), in which majority of the QTL were detected in SSCs 1, 2, 12, 13, 14 and 16. Several QTL clusters were identified on SSCs 12, 16 and 17, and a cluster of QTL influencing crude protein, crude lipid, drip loss, shear force, CIE a and CIE b were located between 20 and 29 Mb of SSC12. A pleiotropic QTL for drip loss, CIE L and CIE b was also detected on SSC16. These QTL need to be validated in commercial pig populations for genetic improvement in meat quality via marker-assisted selection.

Association of the Porcine Cluster of Differentiation 4 Gene with T Lymphocyte Subpopulations and Its Expression in Immune Tissues

  • Xu, Jingen;Liu, Yang;Fu, Weixuan;Wang, Jiying;Wang, Wenwen;Wang, Haifei;Liu, Jianfeng;Ding, Xiangdong;Zhang, Qin
    • Asian-Australasian Journal of Animal Sciences
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    • v.26 no.4
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    • pp.463-469
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    • 2013
  • Cluster of differentiation 4 (CD4) is mainly expressed on $CD4^+$ T cells, which plays an important role in immune response. The aim of this study was to detect the association between polymorphisms of the CD4 gene and T lymphocyte subpopulations in pigs, and to investigate the effects of genetic variation on the CD4 gene expression level in immune tissues. Five missense mutations in the CD4 gene were identified using DNA pooling sequencing assays, and two main haplotypes (CCTCC and AGCTG) in strong linkage disequilibrium (with frequencies of 50.26% and 46.34%, respectively) were detected in the population of Large White pigs. Our results indicated that the five SNPs and the two haplotypes were significantly associated with the proportions of $CD4^-CD8^-$, $CD4^+CD8^+$, $CD4^+CD8^-$, $CD4^+$ and $CD4^+/CD8^+$ in peripheral blood (p<0.05). Gene expression analysis showed the mRNA level of the CD4 gene in thymus was significantly higher than that in lymph node and spleen (p<0.05). However, no significant difference was observed between animals with CCTCC/CCTCC genotype and animals with AGCTG/AGCTG genotype in the three immune tissues (p>0.05). These results indicate that the CD4 gene may influence T lymphocyte subpopulations and can be considered as a candidate gene affecting immunity in pigs.

Parathyroid Hormone Gene rs6256 and Calcium Sensing Receptor Gene rs1801725 Variants are not Associated with Susceptibility to Colorectal Cancer in Iran

  • Mahmoudi, Touraj;Karimi, Khatoon;Arkani, Maral;Farahani, Hamid;Nobakht, Hossein;Dabiri, Reza;Asadi, Asadollah;Zali, Mohammad Reza
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.15
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    • pp.6035-6039
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    • 2014
  • Background: Substantial evidence from epidemiological studies has suggested that increased levels of calcium may play a protective role against colorectal cancer (CRC). Given the vital role of calcium sensing receptor (CaSR) and parathyroid hormone (PTH) in the maintenance of calcium homeostasis, we explored whether the rs1801725 (A986S) variant located in exon 7 of the CaSR gene and the rs6256 variant located in exon 3 of PTH gene might be associated with CRC risk. Materials and Methods: In this study 860 subjects including 350 cases with CRC and 510 controls were enrolled and genotyped using PCR-RFLP methods. Results: We observed no significant difference in genotype or allele frequencies between the cases with CRC and controls for both CaSR and PTH genes either before or after adjustment for confounding factors including age, BMI, sex, smoking status, and family history of CRC. Furthermore, no evidence for effect modification of any association of rs1801725 and rs6256 variants and CRC by BMI, sex, or tumor site was observed. In addition, there was no significant difference in genotype and allele frequencies between the normal weight (BMI < $25kg/m^2$) cases and overweight/obese (BMI ${\geq}25kg/m^2$) cases for the two SNPs. Conclusions: These data indicated that the CaSR gene A986S variant is not a genetic contributor to CRC risk in the Iranian population. Furthermore, our results suggest for the first time that PTH gene variant does not affect CRC risk. Nonetheless, further studies with larger sample size are needed to validate these findings.

Chronic Fatigue Syndrome (만성 피로증후군)

  • Jung, Seung-Pil;Lee, Keun-Mi
    • Journal of Yeungnam Medical Science
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    • v.24 no.1
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    • pp.1-10
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    • 2007
  • The chronic fatigue immune dysfunction syndrome (abbreviated CFIDS or CFS) is a disorder characterized by debilitating fatigue(over 6 months.), along with cognitive, musculoskeletal, and sleep abnormalities. The etiology of this illness is unlikely to be a single agent. Findings to date suggest that physiological and psychological factors work together to predispose and perpetuate the illness. Diagnosis is made difficult by the nonspecific clinical findings and no available diagnostic testing. With no known cause or cure for the chronic fatigue and immune dysfunction syndrome, treatment is based on relieving symptoms and improving the quality of life of affected patients. There is emerging evidence that chronic fatigue syndrome may be familial. In the future, studies will examine the extent to which genetic and environmental factors play a role in the development of chronic fatigue syndrome. Most patients with CFS have psychiatric problems such as a generalized anxiety disorder, or major or minor depression, therefore, these mental health disorders may be correlated with the pathophysiology of the CFS. The treatment for CFS must be individualized, due to the heterogeneity of the CFS population. Also the treatment of CFS is built on a foundation of patient-physician relationship, respect and advocacy.

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