• Title/Summary/Keyword: RFLP.

검색결과 988건 처리시간 0.023초

Urinary Bladder Cancer Risk Factors: A Lebanese Case-Control Study

  • Kobeissi, Loulou Hassan;Yassine, Ibrahim Adnan;Jabbour, Michel Elias;Moussa, Mohamad Ahmad;Dhaini, Hassan Rida
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권5호
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    • pp.3205-3211
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    • 2013
  • Background: Bladder cancer is the second most incident malignancy among Lebanese men. The purpose of this study was to investigate potential risk factors associated with this observed high incidence. Methods: A case-control study (54 cases and 105 hospital-based controls) was conducted in two major hospitals in Beirut. Cases were randomly selected from patients diagnosed in the period of 2002-2008. Controls were conveniently selected from the same settings. Data were collected using interview questionnaire and blood analysis. Exposure data were collected using a structured face-to-face interview questionnaire. Blood samples were collected to determine N-acetyltransferase1 (NAT1) genotype by PCR-RFLP. Analyses revolved around univariate, bivariate and multivariate logistic regression, along with checks for effect modification. Results: The odds of having bladder cancer among smokers was 1.02 times significantly higher in cases vs. controls. The odds of exposure to occupational diesel or fuel combustion fumes were 4.1 times significantly higher in cases vs controls. The odds of prostate-related morbidity were 5.6 times significantly higher in cases vs controls. Cases and controls showed different clustering patterns of NAT1 alleles. No significant differences between cases and controls were found for consumption of alcohol, coffee, tea, or artificial sweeteners. Conclusions: This is the first case-control study investigating bladder cancer risk factors in the Lebanese context. Results confirmed established risk factors in the literature, particularly smoking and occupational exposure to diesel. The herein observed associations should be used to develop appropriate prevention policies and intervention strategies, in order to control this alarming disease in Lebanon.

Associations of ABCB1 and XPC Genetic Polymorphisms with Susceptibility to Colorectal Cancer and Therapeutic Prognosis in a Chinese Population

  • Yue, Ai-Min;Xie, Zhen-Bin;Zhao, Hong-Feng;Guo, Shu-Ping;Shen, Yu-Hou;Wang, Hai-Pu
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권5호
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    • pp.3085-3091
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    • 2013
  • Associations between ABCB1 and XPC genetic polymorphisms and risk of developing colorectal cancer (CRC) as well as clinical outcomes in CRCs with chemotherapy were investigated. A case-control study was performed on the ABCB1 C3435T, G2677T/A and XPC Lys939Gln polymorphisms in 428 CRC cases and 450 hospitalbased, age and sex frequency-matched controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assays. We observed that the ABCB1 3435CT or CC+CT variants were significantly linked with increasing risk of developing CRC (adjusted OR (95% CI): 1.814 (1.237-2.660), P=0.0022; adjusted OR (95% CI): 1.605 (1.117-2.306), P=0.0102, respectively). Moreover, the distribution frequency of XPC AC genotype or AC+CC genotypes also showed a tendency towards increasing the suscepbility for CRC (P=0.0759 and P=0.0903, respectively). Kaplan-Meier curves showed that the ABCB1 C3435T variant was associated with a tendency toward longer progression-free survival (PFS) (n=343, Log-rank test: P=0.063), and the G2677T/A variant genotypes (GT+TT+GA+AA) with a tendency for longer OS in postoperative oxaliplatin-based patients (n=343, Log-rank test: P=0.082). However, no correlation of the XPC Lys939Gln polymorphism was found with PFS and OS in patients with postoperative oxaliplatin-based chemotherapy (n=343). Our study indicated that ABCB1 polymorphisms might be candidate pharmacogenomic factors for the prediction of CRC susceptibility, but not for prognosis with oxaliplatin chemosensitivity in CRC patients.

황해산 참조기(Pseudosciaena polyactis)의 계군 분석을 위한 분자생물학적 방법 검정 (Preliminary Analysis of Molecular Biological Methods for Stock Identification of Small Yellow Croaker(Pseudosciaena polyactis) in the Yellow Sea)

  • 허회권;황규린;인영철;장정순
    • 한국수산과학회지
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    • 제25권6호
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    • pp.474-484
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    • 1992
  • 황해서식 참조기(Pseudosciaena polyactis)에 대한 계군을 분석하기 위한 연구의 일환으로 우선 황해의 목포 연근해에서 채집된 참조기의 난자와 근육으로부터 mt-DNA와 근육 actin을 추출하였다. 난자의 경우 mt-DNA를 추출한 뒤 제한효소로 처리하여 절편다형현상을 관찰하였으며 근육 actin의 경우 단백질 분해효소(Staphylococcus aureus $V_8$ protease)로 처리하여 N-terminal 절편의 다형현상을 각각 관찰하였다. Mt-DNA의 genome 크기는 약 $\16\pm0.2$ Kb였고 전체 절편수는 37개였으며 사용된 20개의 제한효소 중 8개의 제한효소만이 3개 정도의 절편을 보이므로써 유의성을 관찰할 수 있었다 한편 근육 actin을 Staphylococcus aureus $V_8$단백질 분해효소로 처리하였을 때 N-terminal 부위에서 26 KDa 및 16 KDa의 분자량을 갖는 특이절편을 관찰할 수 있었다.

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Association between Melatonin Receptor 1A Gene and Expression of Reproductive Seasonality in Sheep

  • Chu, M.X.;Cheng, D.X.;Liu, W.Z.;Fang, L.;Ye, S.C.
    • Asian-Australasian Journal of Animal Sciences
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    • 제19권8호
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    • pp.1079-1084
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    • 2006
  • To determine whether a link exists between reproductive seasonality and the structure of the melatonin receptor 1A (MTNR1A) gene, the latter was studied in nonseasonal estrous breeds (Small Tail Han and Hu ewes) and seasonal estrous breeds (Dorset, Suffolk and German Mutton Merino ewes). A large fragment of the exon 2 of the MTNR1A gene was amplified and a uniform fragment of 824 bp was obtained in 239 ewes of five breeds. The 824 bp PCR product was digested with restriction endonucleases Mnl I and Rsa I, and checked for the presence of restriction sites. The presence (allele M) or absence (allele m) of an Mnl I site at base position 605 led to three genotypes MM (236 bp/236 bp), Mm (236 bp/303 bp) and mm (303 bp/303 bp) in five sheep breeds. The presence (allele R) or absence (allele r) of a Rsa I site at base position 604 led to three genotypes RR (267 bp/267 bp), Rr (267 bp/290 bp) and rr (290 bp/290 bp) in five sheep breeds. Frequencies of MM and RR genotypes were obviously higher, and frequencies of mm and rr genotypes were obviously lower in nonseasonal estrous sheep breeds than in seasonal estrous sheep breeds. Sequencing revealed four mutations (G453T, G612A, G706A, C891T) in mm genotype compared to MM genotype and one mutation (C606T) in rr genotype compared to RR genotype. For polymorphic Mnl I and Rsa I cleavage sites, the differences of genotype distributions were very highly significant (p<0.01) between Small Tail Han ewes and seasonal estrous sheep breeds. In each group, no significant difference (p>0.05) was detected. These results preliminarily showed an association between MM, RR genotypes and nonseasonal estrus in ewes and an association between mm, rr genotypes and seasonal estrus in ewes.

Mapping, Tissue Distribution and Polymorphism Study of the Porcine SOCS2 and SOCS3 Genes

  • Li, X.Y.;Liu, B.;Fan, B.;Yu, M.;Zhu, M.J.;Xiong, T.A.;Li, K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제19권2호
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    • pp.165-170
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    • 2006
  • Using the somatic cell hybrid panel (SCHP) and radiation hybrid (IMpRH) panel, porcine SOCS2 gene was mapped at SSC5 (1/2) q21-q24 and closely linked with SW1383 marker (47 cR in distance), while SOCS3 gene was assigned to SSC12p11-(2/3p13) and closely linked with SW2490 (43 cR). The reverse transcriptase-polymerase chain reaction (RT-PCR) was performed to detect the expression of these two genes in the different tissues and the results showed that both SOCS2 and SOCS3 genes were widely expressed in tissues investigated (heart, liver, spleen, lung, kidney skeletal muscle, fat and brain), although some tissues showed lower gene expression. Moreover, SOCS2 and SOCS3 genes had different expression levels at different stages, in different tissues and in different breeds. A G/A substitution, which can be recognized by restriction enzyme of Cfr421, was observed in 5' untranslated region (5'-UTR) of SOCS2 gene. The allele frequencies was investigated by PCR-restriction fragment length polymorphism (PCR-RFLP) method and it showed that the allele frequency among Dahuabai, Erhualian, Yushan, Qingping, Large white and Landrace tested were different. Association analysis in a cross experimental populations revealed no significant association between the SOCS2 gene polymorphism and the economic traits investigated. The full-length coding regions (CDs) of porcine SOCS3 gene was obtained by RT-PCR.

SNP Detection of Carboxypeptidase E Gene and Its Association with Meat Quality and Carcass Traits in Korean Cattle

  • Shin, S.C.;Chung, E.R.
    • Asian-Australasian Journal of Animal Sciences
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    • 제20권3호
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    • pp.328-333
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    • 2007
  • Carboxypeptidase E (CPE) plays an important role in the regulation of the body fat content. Therefore, it has been suggested as candidate gene for traits related to meat quality in beef cattle. This study was conducted to identify single nucleotide polymorphisms (SNPs) in the CPE gene and to investigate association of SNP marker with carcass and meat quality traits in Korean cattle. Three SNPs were identified in the intron 4 (A309G SNP and C445T SNP) and exon 5 (C601T SNP) of the CPE gene by sequence analyses of CPE cDNA and genomic DNA samples. The sequences have been deposited in GenBank database with accession numbers AY970664 and AY970663. Genotyping of the gene-specific SNP marker was carried out using the PCR-RFLP with restriction enzymes DdeI for C445T SNP and NlaIII for C601T SNP. The frequencies of C and T alleles were 0.43 and 0.57 for C445T SNP and 0.42 and 0.58 for C601T SNP, respectively. Statistical analysis indicated that the C445T SNP showed a significant effect (p<0.05) on marbling score (MS) and breeding value of backfat thickness (BF-EBV), respectively. Animals with the CT genotype showed higher marbling score and backfat thickness than those with the TT genotype. This marker also showed a significant dominance effect for the MS and BF-EBV (p<0.05). However, no significant associations were observed between C601T SNP genotypes and all traits examined. The results suggest that the CPE gene may be used as a marker for carcass traits in Korean cattle.

Characterization of porcine cytokine inducible SH2-containing protein gene and its association with piglet diarrhea traits

  • Niu, Buyue;Guo, Dongchun;Liu, Zhiran;Han, Xiaofei;Wang, Xibiao
    • Asian-Australasian Journal of Animal Sciences
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    • 제30권12호
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    • pp.1689-1695
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    • 2017
  • Objective: The cytokine inducible SH2-containing protein (CISH), which might play a role in porcine intestine immune responses, was one of the promising candidate genes for piglet anti-disease traits. An experiment was conducted to characterize the porcine CISH (pCISH) gene and to evaluate its genetic effects on pig anti-disease breeding. Methods: Both reverse transcription polymerase chain reaction (RT-PCR) and PCR were performed to obtain the sequence of pCISH gene. A pEGFP-C1-CISH vector was constructed and transfected into PK-15 cells to analysis the distribution of pCISH. The sequences of individuals were compared with each other to find the polymorphisms in pCISH gene. The association analysis was performed in Min pigs and Landrace pigs to evaluate the genetic effects on piglet diarrhea traits. Results: In the present research, the coding sequence and genomic sequence of pCISH gene was obtained. Porcine CISH was mainly localized in cytoplasm. TaqI and HaeIII PCR restriction fragment length polymorphism (RFLP) assays were established to detect single nucleotide polymorphisms (SNPs); A-1575G in promoter region and A2497C in Intron1, respectively. Association studies indicated that SNP A-1575G was significantly associated with diarrhea index of Min piglets (p<0.05) and SNP A2497C was significantly associated with the diarrhea trait of both Min pig and Landrace piglets (p<0.05). Conclusion: This study suggested that the pCISH gene might be a novel candidate gene for pig anti-disease traits, and further studies are needed to confirm the results of this preliminary research.

Effects of the CYP2C19 Genetic Polymorphism on Gastritis, Peptic Ulcer Disease, Peptic Ulcer Bleeding and Gastric Cancer

  • Jainan, Wannapa;Vilaichone, Ratha-Korn
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권24호
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    • pp.10957-10960
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    • 2015
  • Background: The CYP2C19 genotype has been found to be an important factor for peptic ulcer healing and H. pylori eradication, influencing the efficacy of proton pump inhibitors (PPIs) and the pathogenesis of gastric cancer. The aim of this study was to investigate clinical correlations of the CYP2C19 genotype in patients with gastritis, peptic ulcer disease (PUD), peptic ulcer bleeding (PUB) and gastric cancer in Thailand. Materials and Methods: Clinical information, endoscopic findings and H. pylori infection status of patients were assessed between May 2012 and November 2014 in Thammasat University Hospital, Thailand. Upper GI endoscopy was performed for all patients. Five milliliters of blood were collected for H. pylori serological diagnosis and CYP2C19 study. CYP2C19 genotypes were determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism analysis (RFLP) and classified as rapid metabolizer (RM), intermediate metabolizer (IM) or poor metabolizer (PM). Results: A total of 202 patients were enrolled including 114 with gastritis, 36 with PUD, 50 with PUB and 2 with gastric cancer. Prevalence of CYP2C19 genotype was 82/202 (40.6%) in RM, 99/202 (49%) in IM and 21/202 (10.4%) in PM. Overall H. pylori infection was 138/202 patients (68.3%). H. pylori infection was demonstrated in 72% in RM genotype, 69.7% in IM genotype and 47.6% in PM genotype. Both gastric cancer patients had the IM genotype. In PUB patients, the prevalence of genotype RM (56%) was highest followed by IM (32%) and PM(12%). Furthermore, the prevalence of genotype RM in PUB was significantly greater than gastritis patients (56% vs 36%: p=0.016; OR=2.3, 95%CI=1.1-4.7). Conclusions: CYP2C19 genotype IM was the most common genotype whereas genotype RM was the most common in PUB patients. All gastric cancer patients had genotype IM. The CYP2C19 genotype RM might be play role in development of PUD and PUB. Further study in different population is necessary to verify clinical usefulness of CYP2C19 genotyping in development of these upper GI diseases.

DNA Repair Gene Associated with Clinical Outcome of Epithelial Ovarian Cancer Treated with Platinum-based Chemotherapy

  • Kang, Shan;Sun, Hai-Yan;Zhou, Rong-Miao;Wang, Na;Hu, Pei;Li, Yan
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권2호
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    • pp.941-946
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    • 2013
  • Objective: The nucleotide excision repair (NER) and base excision repair (BER) pathways, two DNA repair pathways, are related to platinum resistance in cancer treatment. In this paper, we studied the association between single nucleotide polymorphisms (SNPs) of involved genes and response to platinum-based chemotherapy in epithelial ovarian cancer. Method: Eight SNPs in XRCC1 (BER), XPC and XPD (NER) were assessed in 213 patients with epithelial ovarian cancer using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and primer-introduced restriction analysis-polymerase chain reaction (PIRA-PCR) techniques. Results: The median progression-free survival (PFS) of patients carrying the Lys/Lys and Lys/Gln+Gln/Gln genotype of the XPC Lys/Gln polymorphism were 25 and 12 months, respectively (P=0.039); and the mean overall survival (OS) of patients was 31.1 and 27.8 months, respectively (P=0.048). Cox's multivariate analysis suggested that patients with epithelial ovarian cancer with the Gln allele had an increased risk of death (HR=1.75; 95% CI=1.06-2.91) compared to those with the Lys/Lys genotype. There are no associations between the XPC PAT+/-, XRCC1 Arg194Trp, Arg280His, Arg399Gln, and XPD Asp312Asn, Lys751Gln polymorphisms and the survival of patients with epithelial ovarian cancer when treated with platinum-based chemotherapy. Conclusion: Our results indicated that the XPC Lys939Gln polymorphism may correlate with clinical outcome of patients with epithelial ovarian cancer when treated with platinum-based chemotherapy in Northern China.

Single Nucleotide Polymorphisms in the u-PA Gene are Related to Susceptibility to Oral Tongue Squamous Cell Carcinoma in the Northern Chinese Han Population

  • Zhong, Feng;Yang, Xue-Cai;Bu, Ling-Xue;Li, Ning-Yi;Chen, Wan-Tao
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권2호
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    • pp.781-784
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    • 2013
  • Aim: The purpose of this study was to determine whether susceptibility to oral tongue squamous cell carcinoma (OSCC) is related to polymorphisms in the u-PA gene. Methods: We examined the rs2227564 C/T and rs2227562 G/A single nucleotide polymorphisms (SNPs) in 196 OSCC patients and 201 age- and gender-matched controls via direct sequencing and PCR-RFLP methods. Results: Significant differences were found in allelic and genotypic distributions of the rs2227564 and rs2227562 loci when comparing cases and controls. In addition, logistic analyses indicated that the rs2227564 C/T genotype was related to a 1.52-fold increased risk of developing OSCC (adjusted OR=1.521, 95%CI: 1.144~2.022, P=0.004). Linkage disequilibrium analysis was conducted and no association between the two loci was found (D'=0.031, $r^2$=0.000). Conclusions: Our findings provide evidence that the rs2227564 C/T SNP in the u-PA gene is associated with the development of OSCC.