• Title/Summary/Keyword: Deletions

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A Proposal on the New Genotyping of Sacbrood viruses for the Definition of korean Sacbrood Virus (kSBV) (한국형 낭충봉아부패병 바이러스(kSBV)의 정의를 위한 새로운 SBV 유전자형의 제안)

  • Lee, Chil-Woo;Yoo, Mi-Sun;Lim, Su-Jin;Kim, Jung-Min;Cho, Yun Sang;Yoon, Byoung-Su
    • Journal of Apiculture
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    • v.32 no.2
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    • pp.89-97
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    • 2017
  • korean Sacbrood Virus (kSBV) was firstly found since 2008 in Korea, and it might be a main reason why 99% of populations belonged to Apis cerana in Korea were disappeared now. In this study, full length, reported DNA sequences of 32 Sacbrood Viruses (SBVs) were analysed based on alignments using nucleotides and/or deduced amino acid sequeces. In this analysis, variable deletions were found that are located around 2,100 bases in each CDS of SBVs. The genotyping depended on these deletions might be related with infection-patterns by these pathogens. In addition, it is not escaped our notice that the genotyping we have proposed immediately suggests a possible origin of kSBV for the quarantine and protection against further invasion.

DNA Sequence Analysis of 1-Nitropyrene-4,5-Oxide and 1-Nitropyrene-9,10-Oxide Induced Mutations in the hprt Gene of Chinese Hamster Ovary Cells

  • Kim, Hyun-Jo;Kim, Tae-Ho;Lee, Sun-Young;Lee, Dong-Hoon;Kim, Sang-In;Pfeifer, Gerd P.;Kim, Seog K.;Lee, Chong-Soon
    • Molecules and Cells
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    • v.19 no.1
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    • pp.114-123
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    • 2005
  • Nitropyrene, the predominant nitropolycyclic hydrocarbon found in diesel exhaust, is a mutagenic and tumorigenic environmental pollutant that requires metabolic activation via nitroreduction and ring oxidation. In order to determine the role of ring oxidation in the mutagenicity of 1-nitropyrene, its oxidative metabolites, 1-nitropyrene 4,5-oxide and 1-nitropyrene 9,10-oxide, were synthesized and their mutation spectra were determined in the coding region of hprt gene of CHO cells by a PCR amplification of reverse-transcribed hprt mRNA, followed by a DNA sequence analysis. A comparison of the two metabolites for mutation frequencies showed that 1-nitropyrene 9,10-oxide was 2-times higher than 1-nitropyrene 4,5-oxide. The mutation spectrum for 1-nitropyrene 4,5-oxide was base substitutions (33/49), one base deletions (11/49) and exon deletions (5/49). In the case of 1-nitropyrene 9,10-oxide, base substitutions (27/50), one base deletions (15/50), and exon deletions (8/50) were observed. Base substitutions were distributed randomly throughout the hprt gene. The majority of the base substitutions in mutant from 1-nitropyrene 4,5-oxide treated cells were $A{\rightarrow}G$ transition (15/33) and $G{\rightarrow}A$ transition (8/33). The predominant base substitution, $A{\rightarrow}G$ transition (11/27) and $G{\rightarrow}A$ transition (8/27), were also observed in mutant from 1-nitropyrene 9,10-oxide treated cells. The mutation at the site of adenine and guanine was consistent with the previous results, where the sites of DNA adduct formed by these compounds were predominant at the sites of purines. A comparison of the mutational patterns between 1-nitropyrene 4,5-oxide and 1-nitropyrene 9,10-oxide showed that there were no significant differences in the overall mutational spectrum. These results indicate that each oxidative metabolite exhibits an equal contribution to the mutagenicity of 1-nitropyrene, and ring oxidation of 1-nitropyrene is an important metabolic pathway to the formation of significant lethal DNA lesions.

In silico Analysis of PERVs Based on the Porcine Genomic Sequence Information (돼지 유전체 염기서열을 이용한 내인성 리트로 바이러스 분석에 관한 연구)

  • Yu, Seong-Lan;Lee, Jun-Heon
    • Korean Journal of Agricultural Science
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    • v.36 no.2
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    • pp.159-165
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    • 2009
  • This study was conducted to identify the PERV (Porcine Endogenous Retrovirus) integration sites and their characterizations using the porcine genomic sequence information. Total 114 Mb (4.2%) sequence of the 2.7 Gb pig genome was investigated for the PERV sequences. As the results, 8 PERV sequences were identified and their genomic structures were deduced from the BLAST searches against previously known PERV genes. Seven PERVs have internal deletions in the protein coding region and they will not be functional. The other one also has internal deletions in the gag and env genes, indicating this PERV is also defective. Even though we could not identify the functional PERVs in this study, the results presented here can be used for the fundamental research materials for controlling PERV infections in relation to xenotransplantation using porcine organs and tissues.

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Genetic Deletions of GSTM1 and GSTT1 in Head and Neck Cancer: Review of the Literature from 2000 to 2012

  • Masood, Nosheen;Yasmin, Azra;Kayani, Mahmood A.
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.6
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    • pp.3535-3539
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    • 2013
  • Head and neck cancer is one of the leading causes of deaths worldwide. Two genes GSTM1 and GSTT1 involved in phase II of carcinogen detoxification have been frequently studied in the literature. Their null genotypes are thought to be associated with increased head and neck cancer risk. However, the published reviews are not up to date and many important papers have been skipped. The current literature review was restricted to the null genotypes of the GSTM1 and GSTT1 genes with special emphasis on the genotypic status. We found that the size of study sample varied greatly and the oral cavity cancer was more influenced by GSTM1 and GSTT1 gene deletions. With respect to ethnicity Asians are more prone to head and neck cancers with these null genotypes as compared to Europeans and Americans. The current review showed significant associations (OR=9.0, 95%CI; 1.4-9.5; OR=3.7, 95%CI; 1.4-9.5) of GSTM1 and GSTT1 null genotypes with head and neck cancers. Review confirms the data of previous reviews that GSTM1 and GSTT1 gene polymorphisms may be risk factors for cancer initiation.

De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case

  • Kim, Ha-Su;Han, Jin-Yeong;Kim, Myo-Jing
    • Clinical and Experimental Pediatrics
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    • v.58 no.8
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    • pp.313-316
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    • 2015
  • Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week gestation. He presented with hypotonia, sensory and neural hearing loss, dysmorphism with frontal bossing, flat nasal bridge, microretrognathia with normal palate and uvula, thin upper lip in an inverted V-shape, a midline sacral dimple, severe calcanovalgus at admission, and severe global developmental delay at 18 months of age. Fluorescence in situ hybridization findings confirmed that the deleted regions contained at least 15q22. The chromosome analysis revealed a karyotype of 46,XY,del(15) (q22q23). Parental chromosome analysis was performed and results were normal. After reviewing the limited literature on interstitial 15q deletions, we believe that the presented case is the first description of mapping of an interstitial deletion involving the chromosome 15q22q23 segment in Korea. This report adds to the knowledge of the clinical phenotype associated with the 15q22q23 deletion.

Studies on Chromosome Aberrations Induced N-ethyl-N-nitrosourea and N-methyl-N-nitrosourea in CHO cells (N-ethyl-N-nitrsourea와 N-methyl-N-nitrosourea에 의한 CHO 세포의 염색체 이상에 관한 연구)

  • Kim, Choon-Kwang
    • The Korean Journal of Zoology
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    • v.24 no.3
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    • pp.163-171
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    • 1981
  • Chromosome aberrations induced by ENU and MNU were investigated in CHO cells at various doses and times after treatment. The results obtained were as follows: The frequency of chromosome aberrations induced by ENU and MNU drastically depends on the length of the post-treatment period and the concentration of these chemicals. In ENU-treated groups, the major type of aberration was chromatid deletions in earlier samples but the frequency of chromatid exchanges increased with time, revealing, predominant type at 24 hours after treatment with $10^-3$ M. In MNU-treated groups, chromatid deletions were also major type but frequency of chromatid exchanges were predominant from 12 hours after treatment with $10^-4$ and $10^-5$ M.

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Analysis of Small Fragment Deletions of the APC gene in Chinese Patients with Familial Adenomatous Polyposis, a Precancerous Condition

  • Chen, Qing-Wei;Zhang, Xiao-Mei;Zhou, Jian-Nong;Zhou, Xin;Ma, Guo-Jian;Zhu, Ming;Zhang, Yuan-Ying;Yu, Jun;Feng, Ji-Feng;Chen, Sen-Qing
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.12
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    • pp.4915-4920
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    • 2015
  • Background: : Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease mainly caused by mutations of the adenomatous polyposis coli (APC) gene with almost complete penetrance. These colorectal polyps are precancerous lesions that will inevitable develop into colorectal cancer at the median age of 40-year old if total proctocolectomy is not performed. So identification of APC germline mutations has great implications for genetic counseling and management of FAP patients. In this study, we screened APC germline mutations in Chinese FAP patients, in order to find novel mutations and the APC gene germline mutation characteristics of Chinese FAP patients. Materials and Methods: The FAP patients were diagnosed by clinical manifestations, family histories, endoscope and biopsy. Then patients peripheral blood samples were collected, afterwards, genomic DNA was extracted. The mutation analysis of the APC gene was conducted by direct polymerase chain reaction (PCR) sequencing for micromutations and multiplex ligation-dependent probe amplification (MLPA) for large duplications and/or deletions. Results: We found 6 micromutations out of 14 FAP pedigrees, while there were no large duplications and/or deletions found. These germline mutations are c.5432C>T(p. Ser1811Leu), two c.3926_3930delAAAAG (p.Glu1309AspfsX4), c.3921_3924delAAAA (p.Ile1307MetfsX13), c3184_3187delCAAA(p.Gln1061AspfsX59) and c4127_4126delAT (p.Tyr1376LysfsX9), respectively, and all deletion mutations resulted in a premature stop codon. At the same time, we found c.3921_3924delAAAA and two c.3926_3930delAAAAG are located in AAAAG short tandem repeats, c3184_3187delCAAA is located in the CAAA interrupted direct repeats, and c4127_4128 del AT is located in the 5'-CCTGAACA-3', 3'-ACAAGTCC-5 palindromes (inverted repeats) of the APC gene. Furthermore, deletion mutations are mostly located at condon 1309. Conclusions: Though there were no novel mutations found as the pathogenic gene of FAP in this study, we found nucleotide sequence containing short tandem repeats and palindromes (inverted repeats), especially the 5 bp base deletion at codon 1309, are mutations in high incidence area in APC gene,.

Antigenic Determinant Mapping in preS2 Region of Hepatitis B Surface Antigen (B형 간염바이러스 표면항원 preS2 부위의 항원결정인자 규명)

  • 권기선;김창수;박주상;한문희;유명희
    • Korean Journal of Microbiology
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    • v.28 no.1
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    • pp.13-18
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    • 1990
  • A DNA sequence encoding the adr subtype preS2 region of hepatitis B virus envelope protein was fused to 5' end of lacZ gene yielding a plasmid pTSZ, in order to produce a preS2-$\beta$-galactosidase fusion protein. Serial deletions from 3' and 5' end of preS2 were constructed in plasmids, which were expressed and their antigenicities were examined with the monoclonal antibody H8. Deletions from amino and carboxy terminal to certain points did not affect the antigenicity, but the longer deletions destroyed the antigenicity. End points of deleted preS2 sequence were determined by DNA sequencing. As a result, each end of preS2 epitope was located in the region of amino acid residue 130-132 and 140-142, respectively. Residue 143 may be supplementary for antigenic epitope since the deletion from carboxy terminal to residue 143 revealed partial defect of antigenicity. In the interval of antigenic epitope the amino acid differences between adr and adw2 subtype occurred ar residue 130, 132, and 141. This result indicated that one or more of the three residues are responsible for the binding specificity of monoclonal antibody H8 to adr subtype preS2 fusion protein.

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Phonetic and Phonological Characteristics in Medieval Galician Portuguese (중세 갈리시아 포르투갈어의 음성ㆍ음운적 특성)

  • Lee Chan-Jong
    • Proceedings of the KSPS conference
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    • 2002.11a
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    • pp.161-164
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    • 2002
  • This study is to investigate the phonetic and phonological characteristics in medieval galician portuguese. It is necessary to consider the phonetic and phonological changes from latin to galician portuguese to understand the phonetic and phonological characteristics in contemporary portuguese. This study considered the palatalization, the phonetic changes in consonant clusters, intervocalic consonant deletions, vowel diphthongizations and vowel nasalizations, which were major phonetic and phonological characteristics in medieval galician portuguese.

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