• Title/Summary/Keyword: RFLP.

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Association of RAD 51 135 G/C, 172 G/T and XRCC3 Thr241Met Gene Polymorphisms with Increased Risk of Head and Neck Cancer

  • Kayani, Mahmood Akhtar;Khan, Sumeera;Baig, Ruqia Mehmood;Mahjabeen, Ishrat
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.23
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    • pp.10457-10462
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    • 2015
  • Homologous recombination repair (HRR) plays an important role in protection against carcinogenic factors. Genes regulating the HRR mechanisms may impair their functions and consequently result in increased cancer susceptibility. RAD 51 and XRCC3 are key regulators of the HRR pathway and genetic variability in these may contribute to the appearance and progression of various cancers including head and neck cancer (HNC). The aim of the present study was to compare the distribution of genotypes of RAD51 (135G/C, 172 G/T) and XRCC3 (Thr241Met) polymorphisms between HNC patients and controls. Each polymorphism was genotyped using the polymerase chain reaction-restriction fragment length polymerase (PCR-RFLP) technique in 200 pathologically confirmed HNC patients along with 150 blood samples from normal, disease free healthy individuals. We observed that homozygous variant CC genotype of RAD51 135G/C was associated with a 2.5 fold increased HNC risk (OR=2.5; 95%CI=0.69-9.53; p<0.02), while second polymorphism of RAD 51 172 G/T, heterozygous variant GT genotype was associated with a 1.68 fold (OR=1.68; 95%CI=1.08-2.61; p<0.02) elevation when compared with controls. In the case of the Thr241Met polymorphism of XRCC3, we observed a 16 fold (OR=16; 95% CI=3.78-69.67; p<0.0002) increased HNC risk in patients compared to controls. These results further suggested that RAD51 (135G/C, 172 G/T) and XRCC3 (Thr241Met) polymorphisms may be effective biomarkers for genetic susceptibility to HNC. Larger studies are needed to confirm our findings and identify the underlying mechanisms.

Correlation between Selected XRCC2, XRCC3 and RAD51 Gene Polymorphisms and Primary Breast Cancer in Women in Pakistan

  • Qureshi, Z.;Mahjabeen, I.;Baig, R.M.;Kayani, M.A.
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.23
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    • pp.10225-10229
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    • 2015
  • Genetic polymorphisms in homologous recombination repair genes cause an abnormal development of cancerous cells. In the present study we evaluated the possibility of breast cancer association with single nucleotide polymorphisms of RAD51, XRCC2 and XRCC3 genes. Polymorphisms selected in this study were RAD51 135G/C, XRCC2 Arg188His; and XRCC3 Thr241Met. Each polymorphism was genotyped using Polymerase chain reaction-restriction fragment length polymorphism in study cohort of 306 females (156 breast cancer patients and 150 controls). We observed that heterozygous variant genotype (GC) of RAD51 135 G/C polymorphism was associated with a significantly (OR=2.70; 95%CI (0.63-1.79); p<0.03) increased risk of breast cancer. In case of the XRCC3 gene we observed that frequency of heterozygous (OR=2.88; 95%CI (1.02-8.14); p<0.02) and homozygous (OR=1.46; 95%CI (0.89-2.40); p<0.04) genotype of Thr241Met polymorphism were significantly higher in breast cancer patients. For the Arg188His polymorphism of XRCC2, ~2fold increase in breast cancer risk (OR=1.6, 95%CI = 0.73-3.50) was associated with GA genotype with a p value for trend of 0.03. Our results suggest that the 135G/C polymorphism of the RAD51, Thr241Met polymorphism of XRCC3 and Arg188His polymorphism of XRCC2 can be independent markers of breast cancer risk in Pakistan.

Association of +405C>G and +936C>T Polymorphisms of the Vascular Endothelial Growth Factor Gene with Sporadic Breast Cancer in North Indians

  • Kapahi, Ruhi;Manjari, Mridu;Sudan, Meena;Uppal, Manjit Singh;Singh, Neeti Rajan;Sambyal, Vasudha;Guleria, Kamlesh
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.1
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    • pp.257-263
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    • 2014
  • Background: Vascular endothelial growth factor (VEGF), an endothelial cell specific mitogen, has been implicated as a critical factor influencing tumor related angiogenesis. The aim of present study was to evaluate the relationship between VEGF +936C>T and +405C>G polymorphisms of VEGF with risk of breast cancer in Punjab, India. Materials and Methods: We screened DNA samples of 192 sporadic breast cancer patients and 192 unrelated healthy, gender and age matched control individuals for VEGF +936C>T and +405C>G polymorphisms using the PCR-RFLP method. Results: For the VEGF +405C>G polymorphism, we observed significantly increased frequency of GG genotype in cases as compared to controls and strong association of +405GG genotype was observed with three fold risk for breast cancer (OR=3.07; 95%CI 1.41-6.65; p=0.003). For the +936C>T polymorphism, significant associations of CT and combined CT+TT genotypes were observed with elevated risk of breast cancer (p=0.021; 0.023). The combined genotype combinations of GG-CC and GG-CT of +405C>G and +936C>T polymorphisms were found to be significantly associated with increased risk of breast cancer (p=0.04; 0.0064). Conclusions: The findings of the present study indicated significant associations of VEGF +936C>T and +405C>G polymorphisms with increased breast cancer risk in patients from Punjab, North India.

Association of a miR-502-Binding Site Single Nucleotide Polymorphism in the 3'-Untranslated Region of SET8 and the TP53 Codon 72 Polymorphism with Cervical Cancer in the Chinese Population

  • Yang, Shao-Di;Cai, Yan-Lin;Jiang, Pei;Li, Wen;Tang, Jian-Xin
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.16
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    • pp.6505-6510
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    • 2014
  • Objective: This study was conducted to identify whether polymorphic variants of set domain-containing protein 8 (SET8) and tumor protein p53 (TP53) codon 72, either independently or jointly, might be associated with increased risk for cervical cancer. Methods: We genotyped SET8 and TP53 codon 72 polymorphisms of peripheral blood DNA from 114 cervical cancer patients and 200 controls using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct DNA sequencing. Results: The frequency of SET8 CC (odds ratios (OR) = 2.717, 95% CI=1.436-5.141) or TP53 GG (OR=2.168, 95% CI=1.149-4.089) genotype was associated with an increased risk of cervical cancer on comparison with the SET8 TT or TP53 CC genotypes, respectively. In additional, interaction between the SET8 and TP53 polymorphisms increased the risk of cervical cancer in a synergistic manner, with the OR being 9.913 (95% CI=2.028-48.459) for subjects carrying both SET8 CC and TP53 GG genotypes. Conclusion: These data suggest that there are significant associations between the miR-502-binding site SNP in the 3'-UTR of SET8 and the TP53 codon 72 polymorphism with cervical cancer in Chinese, and there is a gene-gene interaction.

XRCC3 Thr241Met Gene Polymorphism and Risk of Colorectal Cancer in Kashmir: a Case Control Study

  • Nissar, Saniya;Sameer, Aga Syed;Lone, Tufail A.;Chowdri, Nissar A.;Rasool, Roohi
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.22
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    • pp.9621-9625
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    • 2014
  • XRCC (X-ray cross-complementing group) genes contribute to important DNA repair mechanisms that play roles in the repair of single strand breaks (SSBs) induced by a variety of external and internal factors, including ionizing radiation, alkylating agents and reactive oxygen species. These repair genes have a pivotal role in maintaining genomic stability through different pathways of base excision repair (BER). The aim of this study was to investigate the XRCC3 Thr241Met gene polymorphism in colorectal cancer (CRC) in Kashmir. We investigated the genotype distribution of XRCC3 gene in 120 CRC cases in comparison with 150 healthy subjects and found a significant association between XRCC3 genotypes and CRC ($p{\leq}0.05$). Both heterozygous genotype (Thr/Met) as well as homozygous variant genotype (Met/Met) were moderately associated with elevated risk of CRC [OR=2.53; OR=2.29 respectively]. Also, Thr/Met and Met/Met genotypes demonstrated a significant association with the risk of CRC (p = 0.003). This study displayed a significantly elevated risk for CRC in individuals with XRCC3 Thr/Met and Met/Met Genotype of about 2.5 times that with the Thr/Thr wild genotype.

The SOCS-1 -1478CA/del Polymorphism is not Associated with Colorectal Cancer or Age at Onset in Turkish Subjects

  • Hartavi, Mustafa;Kurt, Ender;Oral, Barbaros;Olmez, Omer Fatih;Cubukcu, Erdem;Deligonul, Adem;Avci, Nilufer;Manavoglu, Osman
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.12
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    • pp.7583-7586
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    • 2013
  • Background: Suppressor of cytokine signaling (SOCS)-1 acts as a key regulator of many cytokine signaling pathways and its abnormal expression has been identified in several human malignancies, suggesting potential roles in carcinogenesis. The aim of this study was to investigate any association between the functional SOCS-1 -1478CA>del polymorphism and colorectal cancer (CC) as well as age at onset in a Turkish clinical sample. Materials and Methods: A total of 122 subjects were enrolled in this case-control study (70 CC cases and 52 controls). The SOCS-1 -1478CA>del polymorphism was genotyped using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: The odds ratio of the del allele for CC relative to the CA allele was not significantly different between the groups (OR=0.71, 95% CI=0.41-1.22, p=0.27). This result did not change after adjustment for age and sex on multivariable regression analysis (OR=0.84, 95% CI=0.59-1.34, p=0.53). When the SOCS-1 -1478CA>del polymorphism was analyzed among CC patients in relation to the age at disease onset, we found no significant differences between subjects with the del/del, CA/del, and CA/CA genotypes. Conclusions: The results of our study did not point towards a major role of the SOCS-1 -1478CA>del polymorphism in the pathogenesis of CC in Turkish subjects.

Association of lnc-LAMC2-1:1 rs2147578 and CASC8 rs10505477 Polymorphisms with Risk of Childhood Acute Lymphoblastic Leukemia

  • Hashemi, Mohammad;Bahari, Gholamreza;Naderi, Majid;Bojd, Simin Sadeghi;Taheri, Mohsen
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.11
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    • pp.4985-4989
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    • 2016
  • Long non-coding RNAs (lncRNAs) are a novel class of non-protein coding RNAs that are involved in a wide variety of biological processes. There are limited data regarding the impact of lnc-LAMC2-1:1 rs2147578 as well as CASC8 rs10505477 T>C polymorphisms on cancer development. Here we examined for the first time whether rs2147578 and rs10505477 polymorphisms are associated with childhood acute lymphoblastic leukemia (ALL) in a total of 110 cases and 120 healthy controls. Genotyping was achieved by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The rs2147578 variant increased the risk of ALL in codominant (OR=4.33, 95%CI=2.00-9.37, p<0.0001, CG vs CC, and OR=5.81, 95%CI=2.30-14.69, p=0.0002, GG vs CC), dominant (OR=4.63, 95%CI=2.18-9.86, p<0.0001, CG+GG vs CC), overdominant (OR=1.74, 95%CI=1.02-2.97, p=0.0444, CG vs CC+GG) and allele (OR=1.91, 95%CI=1.32-2.77, p=0.0008, G vs C) inheritance models tested. No significant association was found between the CASC8 rs10505477 T>C variant and risk of childhood ALL. In conclusion, the present study revealed that the lnc-LAMC2-1:1 rs2147578 polymorphism may be a risk factor for developing childhood ALL. Further studies with larger sample sizes with different ethnicities are now required to confirm our findings.

Effects of Soil-Plant Interactive System on Response to Exposure to ZnO Nanoparticles

  • Lee, Sooyeon;Kim, Saeyeon;Kim, Sunghyun;Lee, Insook
    • Journal of Microbiology and Biotechnology
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    • v.22 no.9
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    • pp.1264-1270
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    • 2012
  • The ecotoxicological effects of nanomaterials on animal, plant, and soil microorganisms have been widely investigated; however, the nanotoxic effects of plant-soil interactive systems are still largely unknown. In the present study, the effects of ZnO nanoparticles (NPs) on the soil-plant interactive system were estimated. The growth of plant seedlings in the presence of different concentrations of ZnO NPs within microcosm soil (M) and natural soil (NS) was compared. Changes in dehydrogenase activity (DHA) and soil bacterial community diversity were estimated based on the microcosm with plants (M+P) and microcosm without plants (M-P) in different concentrations of ZnO NPs treatment. The shoot growth of M+P and NS+P was significantly inhibited by 24% and 31.5% relative to the control at a ZnO NPs concentration of 1,000 mg/kg. The DHA levels decreased following increased ZnO NPs concentration. Specifically, these levels were significantly reduced from 100 mg/kg in M-P and only 1,000 mg/kg in M+P. Different clustering groups of M+P and M-P were observed in the principal component analysis (PCA). Therefore, the M-P's soil bacterial population may have more toxic effects at a high dose of ZnO NPs than M+P's. The plant and activation of soil bacteria in the M+P may have a less toxic interactive effect on each of the soil bacterial populations and plant growth by the ZnO NPs attachment or absorption of plant roots surface. The soil-plant interactive system might help decrease the toxic effects of ZnO NPs on the rhizobacteria population.

Quantitative Analysis of Human- and Cow-Specific 16S rRNA Gene Markers for Assessment of Fecal Pollution in River Waters by Real-Time PCR

  • Jeong, Ju-Yong;Park, Hee-Deung;Lee, Kyong-Hee;Hwang, Jae-Hong;Ka, Jong-Ok
    • Journal of Microbiology and Biotechnology
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    • v.20 no.2
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    • pp.245-253
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    • 2010
  • The base sequences representing human- and cow-specific 168 rRNA gene markers identified in a T-RFLP analysis were recovered from clone libraries. The human- and cow-specific primers were designed from these sequences and their specificities were analyzed with fecal DNAs from human, cow, and pig. The AllBac primer set showed positive results for all human, cow, and pig samples, whereas the human-specific primer set showed positive result only for the human sample but not for the cow or pig samples. Likewise, the cow-specific primer set showed positive results only for the cow sample but not for the human or pig samples. Real-time PCR assay with these primers was developed for the identification and quantification of fecal pollution in the river water. The human- and cow-specific markers were detected in the order of 9 $\log_{10}$ copies per gram wet feces, which were two orders of magnitude lower than those of total Bacteroidales. For the river water samples, the human-specific marker was detected in $1.7-6.2\;\log_{10}$ copies/100 ml water, which was 2.4-4.9 orders of magnitude lower than those of total Bacteroidales. There was no significant correlation between total Bacteroidales and conventional fecal indicators, but there was a high correlation between Bacteroidales and the human-specific marker. This assay could reliably identify and quantify the fecal pollution sources, enabling effective measures in the watersheds and facilitating water quality management.

Root Rot of Japanese Angelica Caused by Phytophthora cactorum in Nursery and Mycological Characteristics of the Isolates (두릅나무 묘목생산포의 역병 발생 및 분리균의 균학적 특성)

  • Lee, Sang-Hyun;Lee, Jae-Pil;Kim, Kyung-Hee;Shin, Hyeon-Dong
    • The Korean Journal of Mycology
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    • v.33 no.2
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    • pp.98-102
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    • 2005
  • In 2003 to 2005, the root rot of Japanese angelica (Aralia elata) was surveyed in nursery beds of Korea, where incidence of the disease often reached up to 100%. Three isolates were obtained from the infected roots, and identified as Phytophthora cactorum on the basis of cultural, morphological characteristics and molecular analysis. The isolates were characterized by having markedly papillate and broadly ovoid deciduous sporangia. The optimum temperature for mycelium growth was at $25^{\circ}C$ on V8 juice agar. Pathogenicity of the isolates was confirmed by soil mixture inoculation. Approximately 900 bp of ITS rDNA was amplified from all 3 isolates and band pattern of restriction fragments observed by Alu I, Msp I, and Taq I digestion also supported the result of the morphological identification when compared with PhytID database.