• Title/Summary/Keyword: Background deletion

Search Result 73, Processing Time 0.026 seconds

No Association between the CCR5Δ32 Polymorphism and Sporadic Esophageal Cancer in Punjab, North-West India

  • Sambyal, Vasudha;Manjari, Mridu;Sudan, Meena;Uppal, Manjit Singh;Singh, Neeti Rajan;Singh, Harpreet;Guleria, Kamlesh
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.16 no.10
    • /
    • pp.4291-4295
    • /
    • 2015
  • Background: Chemokines and their receptors influence carcinogenesis and cysteine-cysteine chemokine receptor 5 (CCR5) directs spread of cancer to other tissues. A 32 base pair deletion in the coding region of CCR5 that might alter the expression or function of the protein has been implicated in a variety of immune-mediated diseases. The action of antiviral drugs being proposed as adjuvant therapy in cancer is dependent on CCR5 wild type status. In the present study, distribution of CCR5${\Delta}32$ polymorphism was assessed in North Indian esophageal cancer patients to explore the potential of using chemokine receptors antagonists as adjuvant therapy. Materials and Methods: DNA samples of 175 sporadic esophageal cancer patients (69 males and 106 females) and 175 unrelated healthy control individuals (69 males and 106 females) were screened for the CCR5${\Delta}32$ polymorphism by direct polymerase chain reaction (PCR). Results: The frequencies of wild type homozygous (CCR5/CCR5), heterozygous (CCR5/${\Delta}32$) and homozygous mutant (${\Delta}32/{\Delta}32$) genotypes were 96.0 vs 97.72%, 4.0 vs 1.71% and 0 vs 0.57% in patients and controls respectively. There was no difference in the genotype and allele frequencies of CCR5${\Delta}32$ polymorphism in esophageal cancer patients and control group. Conclusions: The CCR5${\Delta}32$ polymorphism is not associated with esophageal cancer in North Indians. As the majority of patients express the wild type allele, there is potential of using antiviral drug therapy as adjuvant therapy.

Association of a Newly Identified Variant of DNA Polymerase Beta (polβΔ63-123, 208-304) with the Risk Factor of Ovarian Carcinoma in India

  • Khanra, Kalyani;Bhattacharya, Chandan;Bhattacharyya, Nandan
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.13 no.5
    • /
    • pp.1999-2002
    • /
    • 2012
  • Background: DNA polymerase is a single-copy gene that is considered to be part of the DNA repair machinery in mammalian cells. The encoded enzyme is a key to the base excision repair (BER) pathway. It is evident that pol beta has mutations in various cancer samples, but little is known about ovarian cancer. Aim: Identification of any variant form of $pol{\beta}$ cDNA in ovarian carcinoma and determination of association between the polymorphism and ovarian cancer risk in Indian patients. We used 152 samples to isolate and perform RT-PCR and sequencing. Results: A variant of polymerase beta (deletion of exon 4-6 and 11-13, comprising of amino acid 63-123, and 208-304) is detected in heterozygous condition. The product size of this variant is 532 bp while wild type pol beta is 1 kb. Our study of association between the variant and the endometrioid type shows that it is a statistically significant factor for ovarian cancer [OR=31.9 (4.12-246.25) with p<0.001]. The association between variant and stage IV patients further indicated risk (${\chi}^2$ value of 29.7, and OR value 6.77 with 95% CI values 3.3-13.86). The correlation study also confirms the association data (Pearson correlation values for variant/stage IV and variant/endometrioid of 0.44 and 0.39). Conclusion: Individuals from this part of India with this type of variant may be at risk of stage IV, endometrioid type ovarian carcinoma.

Associations of CYP1A1, GSTM1 and GSTT1 Polymorphisms with Lung Cancer Susceptibility in a Northern Indian Population

  • Shukla, R.K.;Tilak, A.R.;Kumar, C.;Kant, S.;Kumar, A.;Mittal, B.;Bhattacharya, S.
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.14 no.5
    • /
    • pp.3345-3349
    • /
    • 2013
  • Background: Susceptibility to lung cancer has been shown to be modulated by inheritance of polymorphic genes encoding cytochrome P450 1A1 (CYP1A1) and glutathione S transferases (GSTM1 and GSTT1), which are involved in the bioactivation and detoxification of environmental toxins. This might be a factor in the variation in lung cancer incidence with ethnicity. Materials and Methods: We conducted a case-control study of 218 northern Indian lung cancer patients along with 238 healthy controls, to assess any association between CYP1A1, GSTM1 and GSTT1 polymorphisms, either separately or in combination, with the likelihood of development of Lung cancer in our population. Results: We observed a significant difference in the GSTT1 null deletion frequency in this population when compared with other populations (OR=1.87, 95%CI: 1.25-2.80-0.73, P=0.002). However, GSTM1 null genotype was found associated with lung cancer in the non-smoking subgroup. (P=0.170). Conclusions: Our study showed the GSTT1 null polymorphism to be associated with smoking-induced lung cancer and the GSTM1 null polymorphism to have a link with non-smoking related lung cancer.

Interaction of Tobacco Smoking and Chewing with Angiotensin Converting Enzyme (Insertion/Deletion) Gene Polymorphisms and Risk of Lung Cancer in a High Risk Area from Northeast India

  • Phukan, Rup Kumar;Borah, Prasanta Kumar;Saikia, Bhaskar Jyoti;Das, Mandakini;Sekhon, Gaganpreet Singh;Mahanta, Jagadish
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.15 no.24
    • /
    • pp.10691-10695
    • /
    • 2015
  • Background: Association of angiotensin converting enzyme (ACE) gene polymorphisms with lung cancer susceptibility remains uncertain and varies with ethnicity. Northeast India represents a geographically, culturally, and ethnically isolated population. The area reports an especially high rate of tobacco usage in a variety of ways of consumption, compared with the rest of the Indian population. Materials and Methods: We conducted a population based case control study in two major high risk region for lung cancer from Northeast India. A total of 151 consecutive lung cancer cases diagnosed histopathologically and equal numbers of controls were recruited with record of relevant sociodemographic information. Blood samples were collected and processed to identify ACE gene polymorphism. Results: Significantly higher (40.4 % vs 29.1%, OR=1.97, CI=1.04-3.72; p=0.037) prevalence of the ACE II genotype was observed among lung cancer cases. Smoking was significantly associated with increased risk of lung cancer (OR=1.70, CI=1.02-2.81; p=0.041). An enhanced risk was also observed for interaction of ACE II genotype with tobacco smoking (OR=4.09, CI=1.51-11.05; p=0.005) and chewing (OR=3.68, CI=1.22-11.13; p=0.021). Conclusions: The present study indicates significant association s of the ACE II genotype with lung cancer in high risk Northeast India.

Alpha 1,3-Galactosyltransferase Deficiency in Miniature Pigs Increases Non-Gal Xenoantigens

  • Min, Gye-Sik;Park, Jong-Yi
    • Reproductive and Developmental Biology
    • /
    • v.35 no.4
    • /
    • pp.511-518
    • /
    • 2011
  • To avoid hyperacute rejection of xenografts, ${\alpha}1,3$-galactosyltransferase knock-out (GalT KO) pigs have been produced. In this study, we examined whether Sia-containing glycoconjugates are important as an immunogenic non-Gal epitope in the pig liver with disruption of ${\alpha}1,3$-galactosyltransferase gene. The target cells were then used as donor cells for somatic cell nuclear transfer (scNT). A total of 1,800 scNT embryos were transferred to 10 recipients. One recipient developed to term and naturally delivered two piglets. Real-time RT-PCR and glycosyltransferase activity showed that ${\alpha}2,3$-sialyltransferase (${\alpha}2,3ST$) and ${\alpha}2,6$-sialyltransferase (${\alpha}2,6ST$) in the heterozygote GalT KO liver have higher expression levels and activities compared to controls, respectively. According to lectin blotting, sialic acidcontaining glycoconjugate epitopes were also increased due to the decreasing of ${\alpha}$-Gal in heterozygote GalT KO liver, whereas GalNAc-containing glycoconjugate epitopes were decreased in heterozygote GalT KO liver compare to the control. Furthermore, the heterozygote GalT KO liver showed a higher Neu5Gc content than control. Taken together, these finding suggested that the deficiency of GalT gene in pigs resulted in increased production of Neu5Gc-bounded epitopes (H-D antigen) due to increase of ${\alpha}2,6$-sialyltransferase. Thus, this finding suggested that the deletion of CMAH gene to the GalT KO background is expected to further prolong xenograft survival.

Weak D Testing is not Required for D- Patients With C-E- Phenotype

  • Choi, Sooin;Chun, Sejong;Lee, Hwan Tae;Yu, HongBi;Seo, Ji Young;Cho, Duck
    • Annals of Laboratory Medicine
    • /
    • v.38 no.6
    • /
    • pp.585-590
    • /
    • 2018
  • Background: Although testing to detect weak D antigens using the antihuman globulin reagent is not required for D- patients in many countries, it is routinely performed in Korea. However, weak D testing can be omitted in D- patients with a C-E- phenotype as this indicates complete deletion of the RHD gene, except in rare cases. We designed a new algorithm for weak D testing, which consisted of RhCE phenotyping followed by weak D testing in C+ or E+ samples, and compared it with the current algorithm with respect to time and cost-effectiveness. Methods: In this retrospective study, 74,889 test results from January to July 2017 in a tertiary hospital in Korea were analyzed. Agreement between the current and proposed algorithms was evaluated, and total number of tests, time required for testing, and test costs were compared. With both algorithms, RHD genotyping was conducted for samples that were C+ or E+ and negative for weak D testing. Results: The algorithms showed perfect agreement (agreement=100%; ${\kappa}=1.00$). By applying the proposed algorithm, 29.56% (115/389 tests/yr) of tests could be omitted, time required for testing could be reduced by 36% (8,672/24,084 min/yr), and the test cost could be reduced by 16.53% (536.11/3,241.08 USD/yr). Conclusions: Our algorithm omitting weak D testing in D- patients with C-E- phenotype may be a cost-effective testing strategy in Korea.

Reliability and Validity of The Korean Version Scale of Impact of Weight on Quality of Life in $Kids^{(C)}$ (한국어 버전 청소년의 체중 관련 삶의 질 측정도구의 신뢰도와 타당도 검증)

  • Kim, Jeoung-Hyun;Chun, Sungsoo;Choi, Han-Sik
    • The Journal of Korean Society for School & Community Health Education
    • /
    • v.15 no.3
    • /
    • pp.105-125
    • /
    • 2014
  • Background: The purpose of this study was to evaluate reliability and validity of a 27-item Korean Version of the Impact of Weight on Quality of Life in adolescents ($IWQOL-Kids^{(C)}$: Korean Version). Methods: This instrument was administered to 872 adolescents (mean z-BMI: 2.61, mean $age{\pm}SD$: $13.9{\pm}1.2$, male: 51.9%). Reliability was tested by internal consistency method and item analysis, validity test was performed by index of content validity, exploratory factor analysis, confirmatory factor analysis and concurrent validity. Sensitivity was tested by ANOVA and t-test. Analyses were performed using SPSS and Amos 18.0. Results: By an exploratory factor analysis, 4 factors were extracted; 'Body esteem' consisted of 9 items with 35.9% of variance (social life: 6 items, 10.23%, physical comfort: 6 items, 8.21%, family relations: 6 items, 7.0%). Four factors explained 61.34% of total variance. Internal consistency coefficients ranged from .766 to .929 for scales on 27 items and equal to .920 for total score for both the 26-item and 27-item tools. A confirmatory factor analysis was conducted for the convergent validity and discriminant validity. The standardized factor loadings to test the convergent validity showed more than .5(C.R<1.965) on all paths after deletion of item PC1 (avoid stairs). The average variances extracted were more than .50 and the construct reliabilities were more than .70. The average variances extracted were stronger than the squares of correlation coefficient of inter-latent variables. Conclusions: These results support that the $IWQOL-Kids^{(C)}$: Korean Version with a 26-item is a reliable and valid tool in Korean obese adolescents.

  • PDF

Observation of Gene Edition by the Transient Expression of CRISPR-Cas9 System During the Development of Tomato Cotyledon (Agrobacterium을 이용한 토마토 떡잎에서 CRISPR-Cas9 시스템의 임시발현 시 토마토 떡잎 발달 단계에 따른 유전자교정 효율 변화)

  • Kim, Euyeon;Yang, So Hee;Park, Hyosun;Koo, Yeonjong
    • Korean Journal of Environmental Agriculture
    • /
    • v.40 no.3
    • /
    • pp.186-193
    • /
    • 2021
  • BACKGROUND: Before generating transgenic plant using the CRISPR-Cas9 system, the efficiency test of sgRNAs is recommended to reduce the time and effort for plant transformation and regeneration process. The efficiency of the sgRNA can be measured through the transient expression of sgRNA and Cas9 gene in tomato cotyledon; however, we found that the calculated efficiency showed a large variation. It is necessary to increase the precision of the experiment to obtain reliable sgRNA efficiency data from transient expression. METHODS AND RESULTS: The cotyledon of 11th, 15th, 19th, and 23rd-day-old tomato (Solanum lycopersicum cv. Micro-Tom) were used for expressing CRISPR-Cas9 transiently. The agrobacterium harboring sgRNA for targeting ALS2 gene of tomato was injected through the stomata of leaf adaxial side and the genomic DNA was extracted in 5 days after injection. The target gene edition was identified by amplifying DNA fragment of target region and analyzing with Illumina sequencing method. The target gene editing efficiency was calculated by counting base deletion and insertion events from total target sequence read. CONCLUSION: The CRISPR-Cas9 editing efficiency varied with tomato cotyledon age. The highest efficiency was observed at the 19-day-old cotyledons. Both the median and mean were the highest at this stage and the sample variability was also minimized. We found that the transgene of CRISPR-Cas9 system was strongly correlated with plant leaf development and suggested the optimum cotyledon leaf age for Agrobacterium-mediated transfection in tomato.

An Effective Anonymization Management under Delete Operation of Secure Database (안전한 데이터베이스 환경에서 삭제 시 효과적인 데이터 익명화 유지 기법)

  • Byun, Chang-Woo;Kim, Jae-Whan;Lee, Hyang-Jin;Kang, Yeon-Jung;Park, Seog
    • Journal of the Korea Institute of Information Security & Cryptology
    • /
    • v.17 no.3
    • /
    • pp.69-80
    • /
    • 2007
  • To protect personal information when releasing data, a general privacy-protecting technique is the removal of all the explicit identifiers, such as names and social security numbers. De-identifying data, however, provides no guarantee of anonymity because released information can be linked to publicly available information to identify them and to infer information that was not intended for release. In recent years, two emerging concepts in personal information protection are k-anonymity and $\ell$-diversity, which guarantees privacy against homogeneity and background knowledge attacks. While these solutions are signigicant in static data environment, they are insufficient in dynamic environments because of vulnerability to inference. Specially, the problem appeared in record deletion is to deconstruct the k-anonymity and $\ell$-diversity. In this paper, we present an approach to securely anonymizing a continuously changeable dataset in an efficient manner while assuring high data quality.

The frequency of defective genes in vif and vpr genes in 20 hemophiliacs is associated with Korean Red Ginseng and highly active antiretroviral therapy: the impact of lethal mutations in vif and vpr genes on HIV-1 evolution

  • Cho, Young Keol;Kim, Jung-Eun
    • Journal of Ginseng Research
    • /
    • v.45 no.1
    • /
    • pp.149-155
    • /
    • 2021
  • Background: We have reported that internal deletions in the nef, gag, and pol genes in HIV-1-infected patients are induced in those treated with Korean Red Ginseng (KRG). KRG delays the development of resistance mutations to antiretroviral drugs. Methods: The vif-vpr genes over 26 years in 20 hemophiliacs infected with HIV-1 from a single source were sequenced to investigate whether vif-vpr genes were affected by KRG and KRG plus highly active antiretroviral therapy (ART) (hereafter called GCT) and compared the results with our previous data. Results: A significantly higher number of in-frame small deletions were found in the vif-vpr genes of KRG-treated patients than at the baseline, in control patients, and in ART-alone patients (p < 0.001). These were significantly reduced in GCT patients (p < 0.05). In contrast, sequences harboring a premature stop codon (SC) were more significant in GCT patients (10.1%) than in KRG-alone patients, control (p < 0.01), and ART-alone patients (p = 0.078 for peripheral blood mononuclear cells). The proportion of SC in Vpr was similar to that in Vif, whereas the proportion of sequences revealing SC in the env-nef genes was significantly lower than that in the pol-vif-vpr genes (p < 0.01). The genetic distance was 1.8 times higher in the sequences harboring SC than in the sequences without SC (p < 0.001). Q135P in the vif gene is significantly associated with rapid progression to AIDS (p < 0.01). Conclusion: Our data show that KRG might induce sD in the vif-vpr genes and that vif-vpr genes are similarly affected by lethal mutations.