• Title/Summary/Keyword: genetic analyses

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Analysis of Gene Encoding the PBSA Degradation Enzyme (PBSA 분해효소 유전자의 분석)

  • Joo, Hyun-Jin;Kim, Mal-Nam
    • Korean Journal of Environmental Biology
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    • v.28 no.2
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    • pp.95-100
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    • 2010
  • Burkholderia cepacia PBSA-7, Bacillus licheniformis PBSA-8 and Burkholderia sp. PBSA-9 previously collected from Korea soil (Joo and Kim, 2009) were analyzed for the presence of genes encoding proteins operative in the degradation of poly(butylene succinate-co-butylene adipate; PBSA). Polymerase chain reaction analyses revealed a 1.5 kb fragment of the lipase gene (lip A) in B. cepacia PBSA-7 and Burkholderia sp. PBSA-9, while B. licheniformis PBSA-8 harbored the same gene fragment at 600 bp. The three strains possessed "Gly-X1-Ser-X2-Gly" and "Ala-X1-Ser-X2-Gly" lipase sequence regions. Burkholderia sp. PBSA-7 lip A displayed 36~40% homology with the family 1-1 lipases and 82~92% homology with the family 1-5. Burkholderia sp. PBSA-8 lip A was 64~65% homologous with the subfamily 1-4 lipases, but displayed no homology with the subfamily 1-5 lipases. Burkholderia sp. PBSA-9 lip A displayed 35~37% homology with the family I1 lipases and 83~94% homology with the family I2 lipases, similar to Burkholderia sp. PBSA-7.

Study on the Increase of Egg Weight and Early Selection based on Part Record in Layer (산란종계의 란중 증대성과 조기 선발에 관한 연구)

  • Park, Y.H.;Ohh, B. K.
    • Korean Journal of Poultry Science
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    • v.10 no.2
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    • pp.75-81
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    • 1983
  • The records on 787 white Leghorn hens from two different strains, A and K were wed in this study to find out the pattern of increase in egg weight with age and the optimum age of early selection for maximizing the genetic gain. The pattern of increase in egg weight with age in two lines which was expressed on graph showed that the amount of increase was larger in the early part of the laying year and it decreased gradually. Regression equations suggested that egg weight increased linearly with age at the rate of 0.46 gram per week for line A and 0.83 gram for line K. And in the regression analyses of each period mean egg weight on annual mean egg weight, the coefficients of EW 30 that is mean egg weight from 29 weeks of age to 32 weeks of age were 0.86 for line A, 0.88 for line K, and those were the highest figures among the all regression coefficients of each mean egg weight on annual mean egg weight. In estimating the relative selection efficiency of each period mean egg weight on annual mean egg weight in EW 46, selection on EW 34 for line A and on EW 30 for line K was the most efficient for improving egg weight. These results suggested that one periods from 29 weeks of age to 36 weeks of age could be used for the best predictable time for improving annual mean egg weight.

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Functional Significance of Cytochrome P450 1A2 Allelic Variants, P450 1A2*8, *15, and *16 (R456H, P42R, and R377Q)

  • Lim, Young-Ran;Kim, In-Hyeok;Han, Songhee;Park, Hyoung-Goo;Ko, Mi-Jung;Chun, Young-Jin;Yun, Chul-Ho;Kim, Donghak
    • Biomolecules & Therapeutics
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    • v.23 no.2
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    • pp.189-194
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    • 2015
  • P450 1A2 is responsible for the metabolism of clinically important drugs and the metabolic activation of environmental chemicals. Genetic variations of P450 1A2 can influence its ability to perform these functions, and thus, this study aimed to characterize the functional significance of three P450 1A2 allelic variants containing nonsynonymous single nucleotide polymorphisms (P450 $1A2^*8$, R456H; $^*15$, P42R; $^*16$, R377Q). Variants containing these SNPs were constructed and the recombinant enzymes were expressed and purified in Escherichia coli. Only the P42R variant displayed the typical CO-binding spectrum indicating a P450 holoenzyme with an expression level of ~ 170 nmol per liter culture, but no P450 spectra were observed for the two other variants. Western blot analysis revealed that the level of expression for the P42R variant was lower than that of the wild type, however the expression of variants R456H and R377Q was not detected. Enzyme kinetic analyses indicated that the P42R mutation in P450 1A2 resulted in significant changes in catalytic activities. The P42R variant displayed an increased catalytic turnover numbers ($k_{cat}$) in both of methoxyresorufin O-demethylation and phenacetin O-deethylation. In the case of phenacetin O-deethylation analysis, the overall catalytic efficiency ($k_{cat}/K_m$) increased up to 2.5 fold with a slight increase of its $K_m$ value. This study indicated that the substitution P42R in the N-terminal proline-rich region of P450 contributed to the improvement of catalytic activity albeit the reduction of P450 structural stability or the decrease of substrate affinity. Characterization of these polymorphisms should be carefully examined in terms of the metabolism of many clinical drugs and environmental chemicals.

Comparative Analyses for Aroma and Agronomic Traits of Native Rice Cultivars from Central Asia

  • Sarhadi, Wakil Ahmad;Hien, Nguyen Loc;Zanjani, Mehran;Yosofzai, Wahida;Yoshihashi, Tadashi;Hirata, Yutaka
    • Journal of Crop Science and Biotechnology
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    • v.11 no.1
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    • pp.17-22
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    • 2008
  • Aromatic rice has become popular owing to its aroma. Growing demand for aromatic rice has spurred interest in the development of domestic cultivars that offer similar combinations of grain attributes such as texture, cooking characteristics, aroma, and taste. In this study, the most important agronomic attributes and aroma of 26 cultivars from Afghanistan, Iran, and Uzbekistan, and controls from Japan, Thailand, and India were characterized. Also $F_2$ populations derived from the cross between(Jasmine 85 aromatic$\times$Nipponbare non-aromatic) and(Jasmine 85$\times$Basmati 370 aromatic) were obtained. Tasting individual grains, cooking test, 1.7% KOH sensory test, and molecular marker analysis have been applied to distinguish between aromatic and non-aromatic rice. Diversity for some traits of agronomic importance, such as plant height was detected among countries, e.g. Afghan cultivars classified as tall, and Iranian and Uzbek intermediate and short, respectively. Differentiations of panicle, grain, leaf, basal internode, and culm dimension among rice cultivars, indicating the source of rice diversity in Central Asia. According to the results, 6 of 10, 2 of 7, and 0 of 6 of Afghan, Iranian, and Uzbek rice cultivars were scored as aromatic, respectively. Therefore, Afghan cultivars are a good source of aromatic rice germplasm for Central Asia. The expression between aromatic and non-aromatic, and aromatic and aromatic combinations has been evaluated. The observed segregation ratio of these crosses in the $F_2$ populations was tested by $x^2$ analysis against the expected ratio for a single gene. A segregation ratio of 3:1 between non-aromatic and aromatic combination has been detected, while segregation has not been detected between the aromatic and aromatic combinations. Also, parallel results were obtained from the tested aromatic rice cultivars. Thus, our results suggest that a single recessive gene controls aroma in all aromatic rice cultivars.

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Usefulness of Biochemical Analysis for Human Skeletal Remains Assigned to the Joseon Dynasty in Oknam-ri Site in Seocheon, Korea (조선시대 인골에 대한 생화학적 분석의 유용성: 서천군 옥남리 회곽묘 출토 인골을 중심으로)

  • Kang, So-Yeong;Kwon, Eun-Sil;Moon, Eun-Jung;Cho, Eun-Min;Seo, Min-Seok;Kim, Yun-Ji;Jee, Sang-Hyun
    • Journal of Conservation Science
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    • v.26 no.1
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    • pp.95-107
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    • 2010
  • Biochemical research was carried out on 4 human skeletal remains from historical lime-layered tombs assigned to the Joseon Dynasty in Oknam-ri, Seocheon. The preservation of femur was evaluated by stereoscopic microscopy and scanning electron microscopy. Most of specimens showed good histological preservation. The histological results proved to be a good potentiality for biochemical analysis using bio-molecules. The amelogenin gene and mitochondrial DNA (mtDNA) analyses revealed that three specimens perhaps have maternal consanguinity due to sharing with mtDNA haplogroup D4b1, and two specimens buried in the same tomb were a couple in Gatjaegol site. Carbon and nitrogen stable isotope analysis indicated that four deads diet were built around C3 plant as rice, barley, wheat and bean. In this study we characterized genetic and diet features from the social stratum who could make lime-layered tombs during period of the Joseon Dynasty. The results suggest that biochemical research using the human skeletal remains from the Joseon Dynasty has the great potential and reasonable value for archaeology, anthropology, and population genetics.

Association of a Pre-miR-27a Polymorphism with Cancer Risk: an Updated Meta-analysis

  • Bai, Rong-Pan;Weng, Yu;Su, Li-Ling;Jin, Ming-Juan;Xu, Zheng-Ping;Lu, Li-Qin;Chen, Guang-Di
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.23
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    • pp.10107-10114
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    • 2015
  • MicroRNA-27a is highly expressed in cancers and has been identified as an oncogenic microRNA. A genetic variant in pre-miR-27a (rs895819) with a transition of A to G has been demonstrated to be associated with cancer risk; however, the results of these studies remain conflicting rather than conclusive. Therefore, we performed a meta-analysis to derive a more precise estimation. Through searching PubMed or other databases up to March 2014 using the following MeSH terms and keywords, "miR-27a", "polymorphism" and "cancer", seventeen case-control studies were identified in this meta-analysis, including 7,813 cases and 9,602. Crude odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were calculated to investigate the association strength between rs895819 and the susceptibility of cancer. The results of the overall meta-analysis did not suggest any association between rs895819 polymorphism and cancer susceptibility, and this remained in Asians as a subgroup. In Caucasians, however, the rs895819 was associated with a reduced cancer risk in heterozygous (OR, 0.83; 95%CI, 0.75-0.93) and dominant models (OR, 0.84; 95%CI, 0.76-0.93), and the [G] allele of rs895819 showed a protective effect (OR, 0.90, 95%CI, 0.84-0.97). Further studies showed a significant association between the [G] allele of rs895819 and decreased risk of breast cancer (0.91; 95%CI, 0.85-0.98), and stratified analyses indicated a protective effect of the [G] allele in Caucasians (OR, 0.89; 95%CI, 0.82-0.98), younger breast cancer cases (OR, 0.87; 95%CI, 0.79-0.96), and in the group of unilateral breast cancer patients (OR, 0.90; 95%CI, 0.83-0.97). These findings suggest an association between pre-miR-27a polymorphism rs895819 and cancer risk in Caucasians. The protective effect of rs895819 [G] allele in younger breast cancer and in the group of unilateral breast cancer patients await further confirmation since the included studies in this meta-analysis were limited.

The MTHFR C677T Polymorphism and Prostate Cancer Risk: New Findings from a Meta-analysis of 7306 Cases and 8062 Controls

  • Zhang, Wei-Bing;Zhang, Jun-Hong;Pan, Zheng-Qi;Yang, Qi-Sheng;Liu, Bo
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.6
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    • pp.2597-2604
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    • 2012
  • Methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme involved in folate metabolism; a single nucleotide polymorphism (SNP) C677T has been reported to be linked with altered incidences of several diseases. We here conducted a meta-analysis of 15 published epidemiological studies with a total of 7306 cases and 8062 controls to evaluate its association with prostate cancer risk with overall and subgroup analyses. No statistical relationship was found overall with any genetic model (TT vs. CC: OR = 0.80, 95%CI = [0.62, 1.04], P = 0.094; CT vs. CC: OR = 0.97, 95%CI = [0.84; 1.12], P = 0.667; Dominant: OR = 0.94, 95%CI = [0.82; 1.07], P = 0.343; Recessive: OR = 0.81, 95%CI = [0.64; 1.04], P = 0.104), but after the exclusion of several studies, we could observe the homozygote TT to confer less susceptibility to prostate cancer in carriers; moreover, different effects of the polymorphism on prostate cancer risk was detected from subgroup analysis stratified by participants' residential region: significant reduced prostate cancer risk was found to be associated with the polymorphism from Asian studies (TT vs. CC: OR = 0.47, 95%CI = [0.33; 0.67], P < 0.001; CT vs. CC: OR = 0.73, 95%CI = [0.60; 0.90], P = 0.002; Dominant: OR = 0.67, 95%CI = [0.56; 0.82], P < 0.001; Recessive: OR = 0.55, 95%CI = [0.40; 0.76], P < 0.001) while studies from Europe indicated a slight increased risk under dominant model with marginal significance (OR = 1.14, 95%CI = [0.99; 1.30], P = 0.064). Moreover, the protective effect of the polymorphism against prostate cancer was also shown by studies performed in yellow Asians (TT vs. CC: OR = 0.48, 95%CI = [0.31; 0.75], P = 0.001; CT vs. CC: OR = 0.68, 95%CI = [0.51; 0.90], P = 0.006; Dominant: OR = 0.63, 95%CI = [0.48; 0.82], P < 0.001; Recessive: OR = 0.57, 95%CI = [0.39; 0.84], P = 0.004). We propose that these phenomena should be viewed with the consideration of folate metabolism profile and different gene background as well as living habits of different populations, and more relevant studies should be conducted to confirm our hypothesis and provide a comprehensive and clear picture concerning this topic.

Breast Cancer Association Studies in a Han Chinese Population using 10 European-ancestry-associated Breast Cancer Susceptibility SNPs

  • Guan, Yan-Ping;Yang, Xue-Xi;Yao, Guang-Yu;Qiu, Fei;Chen, Jun;Chen, Lu-Jia;Ye, Chang-Sheng;Li, Ming
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.1
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    • pp.85-91
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    • 2014
  • Background: Genome-wide association studies (GWAS) have identified various genetic susceptibility loci for breast cancer based mainly on European-ancestry populations. Differing linkage disequilibrium patterns exist between European and Asian populations. Methods: Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. Association analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95% CI) for each SNP. Stratification analyses were carried out based on the estrogen receptor (ER) and progesterone receptor (PR) status. Results: Among the 10 SNPs, rs10941679 showed significant association with breast cancer when differences between the case and control groups in this Han Chinese population were compared (30.09% GG, 45.4% GA and 23.7% AA; P = 0.012). Four SNPs (rs311499, rs1045485, rs12964873 and rs8170) showed no polymorphisms in our study. The remaining five SNPs showed no association with breast cancer in the present population. Immunohistochemical tests showed that rs2075555 was associated with ER status; the AA genotype showed greater association with ER negative than ER positive (OR = 0.54, 95% CI, 0.29-0.99; P = 0.046). AA of rs7166081 was also associated with ER status, but showed a greater association with ER positive than negative (OR = 1.59, 95% CI = 1.04-2.44; P = 0.031). However, no significant associations were found among the SNPs and PR status. Conclusion: In this study using a Han Chinese population, rs10941679 was the only SNP associated with breast cancer risk, indicating a difference between European and Chinese populations in susceptibility loci. Therefore, confirmation studies are necessary before utilization of these loci in Chinese.

Association between the HSPA1B ±1267A/G Polymorphism and Cancer Risk: a Meta-analysis of 14 Case-Control Studies

  • Kuang, Dan;Chen, Wei;Song, Yue-Zhang;Yu, Yan-Yan;Zhang, Dong-Ying;Wu, Lang;Tang, Jie
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.16
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    • pp.6855-6861
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    • 2014
  • Background: Previous epidemiological studies have suggested a potential role of the $HSPA1B{\pm}1267A/G$ polymorphism in risk of developing cancer. However, the results were inconsistent. Therefore, we performed this meta-analysis to summarize the possible association with cancer risk. Materials and Methods: We retrieved relevant articles from PubMed, EMBASE, ISI Web of Science, Chinese Biomedical Literature and Chinese National Knowledge Infrastructure. Studies were selected using specific criteria. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess those associations. All analyses were performed using STATA software. Results: Fourteen case-control studies, including 1, 834 cancer cases and 2, 028 controls were included in this meta-analysis. Overall, the results indicated that the G allele of HSPA1B gene ${\pm}1267A/G$ was significantly associated with an increased cancer risk in all genetic models (G vs A: OR=1.51, 95%CI 1.17-1.95, p=0.001; GG vs AA: OR=2.93, 95%CI 1.50-5.74, p=0.002; AG vs AA: OR=1.48, 95%CI 1.10-1.98, p=0.009; GG/AG vs AA: OR=1.69, 95%CI 1.22-2.33, p=0.001; GG vs AG/AA: OR=2.31, 95%CI 1.24-4.32, p=0.009). In the subgroup analysis stratified by ethnicity, a significant association was identified in Caucasians (G vs A: OR=1.35, 95%CI 1.08-1.69, p=0.008; GG/AG vs AA: OR=1.36, 95%CI 1.09-1.70, p=0.007), but not in Asians. In the stratified analysis by cancer types, individuals with the G allele showed an increased risk of hepatocellular carcinoma compared with carriers of the A allele (OR=2.40, 95%CI 1.47-3.91, p<0.001). Inversely, individuals with the GG genotype showed a decreased risk of gastric cancer compared with carriers of the AG/GG genotypes (GG vs AG/AA: OR=0.39, 95%CI 0.20-0.70, p=0.007). Conclusions: This meta-analysis suggests associations between the HSPA1B ${\pm}1267A/G$ polymorphism and risk of cancer. However, this association might be Caucasian-specific and the G allele of this polymorphism probably increases risk of hepatocellular carcinoma while decreasing risk of gastric cancer. Further well-designed studies based on larger sample sizes are needed to validate these findings.

XPD Lys751Gln and Asp312Asn Polymorphisms and Susceptibility to Skin Cancer: A Meta-Analysis of 17 Case-control Studies

  • Zhu, Hai-Li;Bao, Ji-Ming;Lin, Pei-Xin;Li, Wen-Xia;Zou, Zhen-Ning;Huang, Ye-En;Chen, Qing;Shen, Hong
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.16
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    • pp.6619-6625
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    • 2014
  • Background: Numerous studies have explored the influence of XPD Lys751Gln and/or Asp312Asn polymorphisms on skin cancer susceptibility. However, the results remain inconclusive. To derive a more precise estimation, we conducted a comprehensive search to identify all available published studies and performed a meta-analysis. Materials and Methods: Electronic literature searches of the PubMed, CBM and CNKI databases were performed up to March 2014. Odds ratios (ORs) with 95% confidence intervals (CIs) were applied to assess the strength of associations. Results: Seventeen case-control studies were included with a total sample size of 6, 113 cases and 11, 074 controls for the XPD Lys751Gln polymorphism, and 10 studies (3, 840cases and 7, 637 controls) for the XPD Asp312Asn polymorphism were pooled for analysis. Overall, no significant associations were found between the XPD Lys751Gln polymorphism and skin cancer risk in any genetic model. On stratified analysis by tumor type, XPD Lys751Gln polymorphism was not associated with increased risk of non-melanoma skin cancer, but was significantly related with increased risk of cutaneous melanoma (Gln/Gln vs Lys/Lys: OR=1.15, 95%CI=1.02-1.29, p=0.023; dominant model: OR=1.09, 95%CI=1.01-1.18, p=0.036). For the XPD Asp312Asn polymorphism, no significant association with skin cancer risk was observed in overall or subgroup analyses. Conclusions: The present meta-analysis suggests that the XPD Lys751Gln polymorphism may contribute to the risk of cutaneous melanoma from currently available evidence. Further investigations are needed to obtain more insight into possible roles of these two polymorphisms in skin carcinogenesis.