• Title/Summary/Keyword: somatic variants

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Exon 8-9 Mutations of DNA Polymerase β in Ovarian Carcinoma Patients from Haldia, India

  • Khanra, Kalyani;Panda, Kakali;Mitra, A.K.;Sarkar, Ranu;Bhattacharya, Chandan;Bhattacharyya, Nandan
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.8
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    • pp.4183-4186
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    • 2012
  • Background: Ovarian cancer is the number one killer among all the gynecological cancers. We undertook association study to identify potential alterations in the genomic DNA of a DNA repair gene, DNA polymerase beta ($pol{\beta}$), involved in base excision repair (BER), in ovarian carcinomas of patients from Haldia, India. Mutations, splice variants have been reported earlier in different tumors other than ovarian tumors. Aim: In this study we explored the possibility of association of any mutation of $pol{\beta}$ (Exon 8) with prognosis in 152 ovarian cancer samples. Results: Alteration in the exon 8 region (Exon 8:468, $A{\rightarrow}C$; 15.1%) was noted among fifty seven polymorphism positive samples. Alteration in the intervening sequence 8 (IVS8, -25, $A{\rightarrow}C$; 3.9%) was also noted. All alterations are heterozygous in nature. Conclusions: We found no significant association among the samples from serous type, stage IV, and the $pol{\beta}$ mutations ($P{\leq}0.01$). Only a slight tendency of association was evident between IVS8, -25, A to C; and stage III. Further analysis with a larger number of samples is needed.

Generation of Whole-Genome Sequencing Data for Comparing Primary and Castration-Resistant Prostate Cancer

  • Park, Jong-Lyul;Kim, Seon-Kyu;Kim, Jeong-Hwan;Yun, Seok Joong;Kim, Wun-Jae;Kim, Won Tae;Jeong, Pildu;Kang, Ho Won;Kim, Seon-Young
    • Genomics & Informatics
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    • v.16 no.3
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    • pp.71-74
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    • 2018
  • Because castration-resistant prostate cancer (CRPC) does not respond to androgen deprivation therapy and has a very poor prognosis, it is critical to identify a prognostic indicator for predicting high-risk patients who will develop CRPC. Here, we report a dataset of whole genomes from four pairs of primary prostate cancer (PC) and CRPC samples. The analysis of the paired PC and CRPC samples in the whole-genome data showed that the average number of somatic mutations per patients was 7,927 in CRPC tissues compared with primary PC tissues (range, 1,691 to 21,705). Our whole-genome sequencing data of primary PC and CRPC may be useful for understanding the genomic changes and molecular mechanisms that occur during the progression from PC to CRPC.

Cryopreservation of Embryogenic Tissue and Plant Regeneration in Larix leptolepis (낙엽송 (Larix leptolepis) 배발생조직의 초저온보존 및 식물체 재분화)

  • Kim, Yong-Wook;Kim, Joon-Chul;Youn, Yang;Noh, Eu-Rae;Son, Sung-Ho
    • Korean Journal of Plant Tissue Culture
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    • v.26 no.4
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    • pp.229-233
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    • 1999
  • The possibility for long-term preservation of Larix leptolepis embryogenic tissue was tested in this study. Higher relative increase of the tissue fresh weight was observed when embryogenic tissue was pretreated for 24 hrs in a medium containing 0.4 M sorbitol or 20% polyethyleneglycol with cooling rate of -0.33$^{\circ}C$/min. The fast cooling rate of -0.5$^{\circ}C$ and -1.$0^{\circ}C$/min appeared to be less effective in regrowth of tissues from cryopreservation. No DNA variants have been observed by PCR analysis among the embryogenic tissues recovered after 1-, 7-, and 28-day-cryopreservation. The post-thaw embryogenic tissue gave rise to mature somatic embryos which developed into plants.

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Assessment of the Glycophorin A Mutant Assay as a Biologic Marker for Low Dose Radiation Exposure (저선량 방사선 노출에 대한 생물학적 지표로서 Glycophorin A 변이발현율 측정의 유용성 평가)

  • Ha, Mi-Na;Yoo, Keun-Young;Ha, Sung-Whan;Kim, Dong-Hyun;Cho, Soo-Hun
    • Journal of Preventive Medicine and Public Health
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    • v.33 no.2
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    • pp.165-173
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    • 2000
  • Objectives : To assess the availability of the glycophorin A (GPA) assay to detect the biological effect of ionizing radiation in workers exposed to low-doses of radiation. Methods : Information on confounding factors, such as age and cigarette smoking was obtained on 144 nuclear power plant workers and 32 hospital workers, by a self-administered questionnaire. Information on physical exposure levels was obtained from the registries of radiation exposure monitoring and control at each facility. The GPA mutant assay was performed using the BR6 method with modification by using a FACScan flow cytometer. Results : As confounders, age and cigarette smoking habits showed increasing trends with GPA variants, but these were of no statistical significance. Hospital workers showed a higher frequency of the GPA variant than nuclear power plant workers in terms of the NO variant. Significant dose-response relationships were obtained from in simple and multiple linear regression models. The slope of the regression equation for nuclear power plant workers was much smaller than that of hospital workers. These findings suggest that there may be apparent dose-rate effects. Conclusion : In population exposed to chronic low-dose radiation, the GPA assay has a potential to be used as an effective biologic marker for assessing the bone marrow cumulative exposure dose.

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Development of Cryopreservation Protocols through Droplet-vitrification and its Application to Vegetatively Propagated Crop Germplasm (영양체 유전자원의 작은방울-유리화법에 의한 초저온동결보존 실용화기술개발)

  • Kim, Haeng-Hoon;Yi, Jung-Yoon;No, Na-Young;Cho, Gyu-Taek;Yoon, Mun-Sup;Baek, Hyung-Jin;Kim, Chung-Kon
    • Proceedings of the Plant Resources Society of Korea Conference
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    • 2010.05a
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    • pp.12-12
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    • 2010
  • We developed droplet-vitrification protocol, a combination of droplet-freezing and solution-based vitrification, and applied to germplasm collections of garlic, potato, lily as well as cell lines, including hairy roots, somatic embryos. To establish a garlic cryobank, four Korean garlic field collections at Danyang, Suwon, Mokpo and Namhae were cryopreserved last five years. The protocol applied consisted of preculture for 3-4 days at $10^{\circ}C$ on solid MS medium with 0.3M sucrose, loading for 40 min in liquid medium with 35% PVS3, dehydration with PVS3 for 150 min, cooling in $5{\mu}l$ droplets of PVS3 placed on aluminum foil strips by dipping these strips in liquid nitrogen, warming them by plunging the foil strips into pre-heated($40^{\circ}C$) 0.8M sucrose solution for 30s. A total of over 900 accessions of garlic were stored in liquid nitrogen for long-term conservation using unripe inflorescences, cloves or bulbils. Twelve alternative plant vitrification solutions were designed by modifying cryoprotectant concentrations from the original PVS2 and PVS3. The results suggest that PVS2-based vitrification solutions with increased glycerol and sucrose and/or decreased DMSO and EG concentrations can be applied for medium size explants which are tolerant to chemical toxicity and moderately sensitive to osmotic stress. PVS3 and variants can be used widely when samples are heterogeneous, of large size and/or very sensitive to chemical toxicity and tolerant to osmotic stress.

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