• Title/Summary/Keyword: Gene testing

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Expression of the Antioxidant Enzyme and Apoptosis Genes in In vitro Maturation/In vitro Fertilization Porcine Embryos

  • Jang, H.Y.;Kong, H.S.;Lee, S.S.;Choi, K.D.;Jeon, G.J.;Yang, B.K.;Lee, C.K.;Lee, H.K
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.1
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    • pp.33-38
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    • 2004
  • This study was aimed at testing the gene expression of antioxidant enzymes and apoptosis genes for in vitro culture in porcine embryos produced by in vitro maturation/in vitro fertilization (IVM/IVF). Pocine preimplantation embryos obtainted from IVM/IVF can be successfully culture in vitro, but they are delayed or stop to develop at specific developmental stage. Many factors such as reactive oxygen species and apoptosis in an IVM/IVF system followed by in vitro culture influence the rate of production of viable blastocysts. Porcine embryos derived from IVM/IVF were cultured in the atmosphere of 5% $CO_2$ and 20% $O_2$ at $38.5^{\circ}C$ in NCSU23 medium. The patterns of gene expression for antioxidant enzymes and apoptosis genes during in vitro culture in pocine IVM/IVF embryos were examined by the modified semi-quantitative single cell reverse transcriptase-polymerase chain reaction (RT-PCR). Porcine embryos produced by in vitro procedures were expressed mRNAs for CuZn-SOD, GAPDH and GPX, whereas transcripts for Mn-SOD and catalase were not detected at any developmental stages. Expression of caspase-3 mRNA was detected at 2 cell, 8 cell 16 cell and blastocyst, but p53 mRNA was not detected at any stages. The fas transcripts was only detected in blastocyst stage. These results suggest that various antioxidant enzymes and apoptosis genes play crucial roles in vitro culture of porcine IVM/IVF embryos.

The C Allele of a Synonymous SNP (rs1805414, Ala284Ala) in PARP1 is a Risk Factor for Susceptibility to Breast Cancer in Saudi Patients

  • Alanazi, Mohammed;Pathan, Akbar Ali Khan;Shaik, Jilani P.;Al Amri, Abdullah;Parine, Narasimha Reddy
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.5
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    • pp.3051-3056
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    • 2013
  • Background: Genetic aberrations of DNA repair enzymes are known to be common events associated with different cancer entities. The aim of the present study was to analyze genetic associations of rs1805404 (Asp81Asp) and rs1805414 (Ala284Ala) in the PARP1 gene with the risk of breast cancer in Saudi Arabia. Materials and Methods: These two SNP's were analyzed in a primary study group of breast cancer patients and healthy control subjects. Genotypes were determined by TaqMan SNP testing and analyzed using Chi-square or t test and logistic regression analysis with SPSS16.0 software. Results and Conclusions: Results showed that rs1805414 was associated with a significantly increased susceptibility to breast cancer, significant risk being observed for the TC, CC and TC+CC genotypes. In conclusion PARP1 rs1805414 SNP polymorphisms may be involved in the etiology of breast cancer in the Saudi population. In contrast, PARP1 rs1805404 did not show any significant association in overall in breast cancer samples when compared to healthy controls. Confirmation of our findings in larger populations of different ethnicities may provide evidence for a role of the PARP1 gene in breast carcinoma developnment.

Molecular Taxonomy of a Soil Actinomycete Isolate, KCCM10454 Showing Neuroprotective Activity by 16S rRNA and rpoB Gene Analysis

  • Lee Bong Hee;Kim Hong;Kim Hyun Ju;Lim Yoon Kyu;Byun Kyung Hee;Hutchinson Brian;Kim Chang Jin;Ko Young Hwan;Lee Keun Hwa;Cha Chang Yong;Kook Yoon Hoh;Kim Bum Joon
    • Journal of Microbiology
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    • v.43 no.2
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    • pp.213-218
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    • 2005
  • Epilepsy constitutes a significant public health problem, and even the newest drugs and neurosurgical techniques have proven unable to cure the disease. In order to select a group of isolates which could generate an active compound with neuroprotective or antiepileptic properties, we isolated 517 actinomycete strains from soil samples taken from Jeju Island, in South Korea. We then screened these strains for possible anti-apoptotic effects against serum deprivation-induced hippocampal cell death, using the 3-(4, 5-dimethylthiazol-2-yl)2,5-diphenyl-tetrazolium bromide (MTT) assay as an in vitro test. The excitotoxic glutamate analog, kainic acid (KA), was used to induce seizures in experimental mice in our in vivo tests. As a result of this testing, we located one strain which exhibited profound neuroprotective activity. This strain was identified as a Streptomyces species, and exhibited the rifampinresistant genotype, Asn$(AAC)^$442, according to the results of 16S rRNA and rpoB gene analyses

Incidence, Molecular Characteristics and Pathogenicity of Gibberella fujikuroi Species Complex Associated with Rice Seeds from Asian Countries

  • Jeon, Young-Ah;Yu, Seung-Hun;Lee, Young Yi;Park, Hong-Jae;Lee, Sokyoung;Sung, Jung Sook;Kim, Yeon-Gyu;Lee, Ho-Sun
    • Mycobiology
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    • v.41 no.4
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    • pp.225-233
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    • 2013
  • Gibberella fujikuroi species complex (GFSC) was isolated from rice (Oryza sativa L.) seed samples from ten Asian countries and investigated for incidence of GFSC, molecular characteristics, and pathogenicity. Regardless of geographic origin, GFSC was detected with incidences ranging from 3% to 80%. Four species, Fusarium fujikuroi, F. concentricum, F. proliferatum, and F. verticillioides, were found to show an association with rice seeds, with F. fujikuroi being the predominant species. In phylogenetic analyses of DNA sequences, no relationship was found between species, isolates, and geographic sources of samples. Unidentified fragments of the ${\beta}$-tubulin gene were observed in ten isolates of F. fujikuroi and F. verticillioides. With the exception of three isolates of F. fujikuroi, F. fujikuroi, F. proliferatum, and F. verticillioides were found to have FUM1 (the fumonisin biosynthetic gene); however, FUM1 was not found in isolates of F. concentricum. Results of pathogenicity testing showed that all isolates caused reduced germination of rice seed. In addition, F. fujikuroi and F. concentricum caused typical symptoms of bakanae, leaf elongation and chlorosis, whereas F. proliferatum and F. verticillioides only caused stunting of seedlings. These findings provide insight into the characteristics of GFSC associated with rice seeds and might be helpful in development of strategies for management of bakanae.

A family with NKX2.5 gene mutations presenting as familial atrial septal defect and atrioventricular block: A case report

  • Choi, Youn Young;Woo, Min Hyung;Kim, Gi Beom;Song, Mi Kyoung;Lee, Sang Yoon;Bae, Eun Jung;Choi, Murim;Kim, Young-Sook
    • Journal of Genetic Medicine
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    • v.15 no.1
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    • pp.20-23
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    • 2018
  • Point mutations in the human cardiac homeobox gene NKX2.5 are associated with familial atrial septal defect (ASD), atrioventricular (AV) conduction disturbance, as well as sudden cardiac death. To date, more than 60 NKX2.5 mutations have been documented, but there are no reports in Korea. We are reporting the first Korean family with ASD and AV block associated with a novel mutation in the NKX2.5 coding region. A 9-year-old boy presented with a slow and irregular pulse, and was diagnosed with secundum ASD and first degree AV block. The boy's father, who had a history of ASD correction surgery, presented with second degree AV block and atrial fibrillation. The boy's brother was also found to have secundum ASD and first degree AV block. There were two sudden deaths in the family. Genetic testing revealed a novel mutation of NKX2.5 in all affected members of the family.

A study on internal morphological standard in Codonopsis Pilosulae Radix (黨參의 內部構造規格設定에 관한 硏究)

  • Kim, Baek-Cheol;Kang, Kyung-sic;Ju, Young-sung
    • The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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    • v.13 no.1
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    • pp.253-266
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    • 2000
  • In order to strengthen objectivity and availability of oriental herb medicine, the standard formula for herbs has been attempted to set up by experimenting and documentary testing original herbs which were recorded in authorized document. The object herb medicine is Codonopsis Pilosulae Radix. The internal and external morphological standard in this study is expected to supply the search for several physiochemical reaction, biological reaction, determination of indicator material and identification of gene with basic sources in the future. The result of study is as follows; In the external shape, it was possible that herbs were distinguished according to artificial classification and that same genus-degree of relatedness among herbs could be distinguished by more precise and active observation. In the shape of real herbs, I compared current herbs in market with original herbs which were just collected or were on the course of drying. In addition, it was possible that the internal shape could be identified by using microscope after butanol series. In powder herbs, it was possible to purify the shape by microscope through maceration of natural and powder herbs. Though it was impossible to make distinction of herbs which are not current in my search contents, this search contents will be a standard for alpplying herbs in the future. Despite such a useful character, it was difficult to deal with power herbs because it was uncertain to make a standard for them on account of the crush of these tissue. Since powders shape of herbs in a few documents were regard not as the powder shapes of natural herbs but as the maceration state of them. It is suggested that we should inspect the original herbs which are not crushed yet with a microscope in order to identify crushed shape of powder herbs from now on. An Additional standard establishment including physiochemical reaction and gene research is required in order to supplement the fault of this search. As for the supplement about this search, considering that many kinds of same genus-degree of relatedness are being current now, it is necessary that each herb should he collected only after identifying and that the succeeding search of each herb should be proceeded for the regular establishment of internal and external standard.

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A Case of Stickler Syndrome Type I Caused by a Novel Variant of COL2A1 Gene (COL2A1 유전자의 새로운 돌연변이에 의한 제 1형 Stickler 증후군으로 진단된 1례)

  • Lee, Jin;Jung, Chang-Woo;Kim, Gu-Hwan;Lee, Beom-Hee;Choi, Jin-Ho;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.8 no.2
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    • pp.125-129
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    • 2011
  • Stickler syndrome is a very rare connective tissue disorder. The authors of the present study describe an 11-month-old girl with high myopia, retinal abnormalities, flat nose, cleft palate, retrognathia, micrognathia, short stature and arthrogryposis. Radiological evaluation also showed irregularity of the epiphysis of the femur and tibia and spondyloepiphyseal dysplasia. Genetic analysis using a peripheral blood sample revealed a novel variant c.787G>A (p.Gly246Asp) mutation of the COL2A1 gene. This is the first Korean case with Stickler syndrome confirmed by genetic testing.

Methylation Abnormality in Body Fluid Cytology: A Supplemental Molecular Marker for the Diagnosis of Malignant Mesothelioma (체액 세포 도말 검사에서 메틸화 이상이 악성 중피종 진단의 부가적인 분자 표지자로서의 기능)

  • Song, Joon-Seon;Jung, Jin-Kyung;Kang, Ji-Hye;Hwang, Il-Seon;Jang, Se-Jin
    • The Korean Journal of Cytopathology
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    • v.19 no.2
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    • pp.126-135
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    • 2008
  • Malignant mesothelioma (MM) is a highly lethal neoplasm arising in pleura and the peritoneum and a rapid and accurate diagnosis is crucial for treatment of the disease. However, the sensitivity of cytological analysis using pleural or ascitic fluid is relatively low, yielding an accurate diagnosis in only $32{\sim}79%$ of cases. We tested the diagnostic value of epigenetic alterations in body fluid cytology as a supplement to conventional methods. Paraffin-embedded tissue blocks from 21 MM patients and associated body fluid cytology slides considered no evidence of malignancy were used to test for epigenetic alteration. Using methylation-specific PCR, we detected methylation of RASSF1A and p16 in 47.6% (10/21) of both surgically resected tumor samples, respectively. Body fluid samples of MM also showed abnormal methylation of RASSF1A and p16INK4a genes in 38.1% (8/21) and 33.3% (7/21) of cases. The concordance in the rates of RASSF1A and p16INK4a gene-methylation abnormalities determined from cytology samples and tissue samples were 61.9% (13/21) and 66.7% (14/21), respectively. Combining both genes increases the sensitivity of the test to 57.1 % (12 of 21) of cases. Our results suggest that testing for methylation abnormalities in selected individual genes or gene combinations has diagnostic value as an alternative or adjunct method to conventional cytological diagnosis.

Characterization of Type VI Secretion System in Xanthomonas oryzae pv. oryzae and Its Role in Virulence to Rice

  • Choi, Yeounju;Kim, Namgyu;Mannaa, Mohamed;Kim, Hongsup;Park, Jungwook;Jung, Hyejung;Han, Gil;Lee, Hyun-Hee;Seo, Young-Su
    • The Plant Pathology Journal
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    • v.36 no.3
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    • pp.289-296
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    • 2020
  • Type VI secretion system (T6SS) is a contact-dependent secretion system, employed by most gram-negative bacteria for translocating effector proteins to target cells. The present study was conducted to investigate T6SS in Xanthomonas oryzae pv. oryzae (Xoo), which causes bacterial blight in rice, and to unveil its functions. Two T6SS clusters were found in the genome of Xoo PXO99A. The deletion mutants, Δhcp1, Δhcp2, and Δhcp12, targeting the hcp gene in each cluster, and a double-deletion mutant targeting both genes were constructed and tested for growth rate, pathogenicity to rice, and inter-bacterial competition ability. The results indicated that hcp in T6SS-2, but not T6SS-1, was involved in bacterial virulence to rice plants. However, neither T6SS-1 nor T6SS-2 had any effect on the ability to compete with Escherichia coli or other bacterial cells. In conclusion, T6SS gene clusters in Xoo have been characterized, and its role in virulence to rice was confirmed.

Risk Reducing Surgery in Carriers with Double Heterozygosity for BRCA1 and BRCA2 Mutations

  • Hong, Woo-Sung;Kim, Ku-Sang;Jung, Yong-Sik;Kang, Seok-Yun;Kang, Doo-Kyoung;Kim, Tae-Hee;Yim, Hyunee;Chun, Mi-Son;Park, Myong-Chul;Chang, Suk-Joon
    • Journal of Genetic Medicine
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    • v.9 no.1
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    • pp.25-30
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    • 2012
  • Among the treatment options for BRCA mutation carriers, risk reducing surgery is the most effective. However, this procedure has been rarely performed in Korea. Interestingly, our case showed double heterozygosity for BRCA1 and BRCA2 mutations. The patient was diagnosed with left renal cancer and left breast cancer at 45-years-of-age, 4 years before risk reducing surgery. The patient received left radical nephrectomy and left partial mastectomy with axillary lymph node dissection. After pretest counseling, the patient underwent genetic testing that identified BRCA1 and BRCA2 mutations. After post-test counseling, the patient decided on intensive surveillance. At 49-years-of-age, the patient was newly diagnosed with contralateral breast cancer. Treatment options were discussed once again. We performed bilateral total mastectomy with immediate reconstruction and prophylactic bilateral salpingo-oophorectomy after multidisciplinary discussion. The patient has been satisfied with the results of surgery. We think this procedure is a recommendable treatment option for BRCA mutation carriers.