• Title/Summary/Keyword: 유전적 고위험군

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Analytical Performance of Sensitivity and Specificity for Rapid Multiplex High Risk Human Papillomavirus Detection Kit: HPV ViroCheck (고위험군 HPV 검출을 위한 분석적 민감도와 특이도 성능평가)

  • Park, Sunyoung;Yoon, Hyeonseok;Bang, Hyeeun;Kim, Yeun;Choi, Seongkyung;Ahn, Sungwoo;Kim, Jungho;Lee, Suji;Yang, Ji Yeong;Lee, Dongsup
    • Korean Journal of Clinical Laboratory Science
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    • v.49 no.4
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    • pp.446-454
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    • 2017
  • Human papillomaviruses (HPVs) are major causes of cervical cancer. Sixteen high risk HPVs, including HPV 16, HPV 18, HPV31, HPV 33, HPV 35, HPV 39, HPV 45, HPV 51, HPV 52, HPV 53, HPV 56, HPV 58, HPV 59, HPV 66, HPV 68, and HPV 69 are found in cervical cancer. HPVs 16 and 18 are mainly presented in 70% of cervical cancer. Therefore, identifying the presence of these high-risk HPVs is crucial. The objective of this study is to establish the HPV ViroCheck for detecting 16 HR-HPVs and genotypes of HPVs 16 and 18, as well as to analyze the analytical performance of HPV ViroCheck. We performed the analytical sensitivity of HPV E6 / E7 genes of 16 high risk HPVs to confirm the limit of detection. Then, a cross reactivity of HPV ViroCheck with microorganisms and viruses related to the cervix were analyzed for analytical specificity. Analytical sensitivity of high risk HPV genotypes ranged from 1 to 100 copies when using cloned DNAs. The limit of detection was 10 cells for both SiHa and HeLa cells. Cervical-related microorganisms and viruses did not show cross-reactivity to HPV DNA. Moreover, the intra- and inter-assay coefficient variations (CVs) were below 5%. In conclusion, HPV Virocheck will be useful for the detection of 16 HR HPVs, as well as HPV 16 and HPV 18 genotypes rapidly.

Genotype Frequency of Human Papillomavirus Determined by PCR and DNA Sequencing in Korean Women

  • Lee, Kyung-Ok;Seong, Hye-Soon;Chung, Soo-Jin;Jung, Na-Young;Lee, Hye-Jung;Kim, Kyung-Tae
    • Korean Journal of Clinical Laboratory Science
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    • v.38 no.2
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    • pp.99-104
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    • 2006
  • Human Papilloma viruses (HPVs) are etiological agents for cervical cancer and are classified into low- and high-risk categories. The aim of this study was to determine the frequency of the HPV genotype in the HPV screening test of Korean women using PCR-direct sequencing. Consensus primers of L1 legion were used for the amplification of HPV DNA and the PCR products (450 bps) obtained were analyzed by automatic sequencing. Sequences were compared with those in GenBank by using the BLAST program. Cervical swab samples of 3,978 women (20-73 years) were tested and the average age was 37.6 years. In this study, 1,174 samples were HPV positive out of 3,978 cervical swab samples screened (29.5%) and 136 samples (11.6%) showed a double infection. A total of 1,310 HPV genotypes were analyzed. The HPV positive rate was the lowest in the 20 years group (69.5%) and most of the samples of the > 60 years group were found HPV positive. Among thirty seven different HPV types identified by sequencing, 21 were HPV high risk types and 16 HPV low risk types were 69.8% (914/1,310) and 26.0% (340/1,310), respectively. In HPV high-risk types, 16 (13.21%), was the most frequently found. HPV 53 (9.62%) and 58 (9.24%) were also frequently found. This group was followed by HPV types 70 (5.50%), 33 (4.73%), 66 (4.20%), 18 (4.05%), 52 (4.05%), 31 (3.97%) and 56 (3.51%) in descending order of frequency. Among HPV low-risk types, 62 (4.20%), 6 (3.59%), 81 (3.59%), 84 (3.51%), and 11 (2.6%) were frequently found. In conclusion, PCR-direct sequencing could be used for quick and reliable typing of known and novel HPVs from clinical specimens. This data could be useful for epidemiological study of HPV and it also allows type-specific follow-up of women who have been treated for cervical intraepithelial neoplasia.

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Prevalence and Genotype Analysis of High Risk-human Papillomavirus Infection in Busan Women (부산지역 여성의 고위험군 인유두종 바이러스 유병률과 유전자형 분석)

  • Kang, Chang-Soo;Lee, Kyung Eun
    • Journal of Life Science
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    • v.29 no.11
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    • pp.1267-1272
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    • 2019
  • The main cause of cervical cancer is the human papillomavirus (HPV), and HPV DNA has been reported in 99.7% of patients with cervical cancer. The worldwide prevalence is highest for the HPV 16 and 18 genotypes, but HPV 52 and 58 have the highest prevalence in Asian countries, including Korea. The purpose of this study was to obtain basic data for the prevention of cervical cancer by analyzing the prevalence of HPV and the genotypes of high risk-human papillomavirus (HR-HPV) infection in women in Busan, Korea. We analyzed 1,995 cases of HPV in women who visited a Busan obstetrics and gynecology hospital from January 2016 to December 2017. The prevalence of HPV among these women was 28.3% (565/1995), and the HR-HPV infection rate was 75.4% (426/565). The HR-HPV genotype with the highest prevalence was HPV-52 (63/565, 11.2%), followed by HPV-58 (56/565, 9.9%), HPV-53 (55/565, 9.7%), and HPV-16 (53/565, 9.4%). The HR-HPV infection rate of young women 18-39 years old was 60.3% (257/426), so this age group should undergo continuous monitoring. The cytological results revealed a high infection rate for HPV-16 in high grade squamous intraepithelial lesions (HSIL) and squamous cell carcinoma (SCC). However, further evaluation of more samples is needed to confirm the HR-HPV genotypes related to the development of cervical epithelial neoplasias.

Rapid detection of aneuploidy using FISH in uncultured amniocytes for prenatal diagnosis : 8-year experience

  • Hwang, Do-Yeong;Lee, Dong-Suk;Choe, Jin;Choi, Hyeh-Sook;Min, Jeong-Yong;Lee, Soo-Min;Kim, Ki-Chul
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.190-195
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    • 2007
  • Purpose : FISH is suggested as a useful tool for rapid detection of specific aneuploidy in uncultured amniocytes abnormality in interphase nucleus. In this study, we are going to share our experience using FISH in prenatal diagnosis and suggest the criteria for the diagnosis of aneuploidy by analyzing the results of FISH test. Methods : From January, 1999 to May, 2006, 8,613 tests in amniotic fluids obtained from 7,893 pregnant women were performed by using FISH for prenatal diagnosis of trisomy 21, trisomy 18 and trisomy 13. The indications of chromosome study were a screen positive for Down syndrome or Edwards syndrome in maternal serum marker screening test and an advanced maternal age (${\geq}35$ years old). Results : We have the 8,502 informative results from 8,613 tests (98.7%) which is submitted our criteria and the sensitivity is 98.2%. Conclusion : FISH on uncultured amniocytes is a rapid, clinically useful tool for prenatal diagnosis, with informative specimens being highly accurate. But the limitation of FISH is both expensive and labor-intensive.

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Exploration of the Gene-Gene Interactions Using the Relative Risks in Distinct Genotypes (유전자형별 상대 위험도를 이용한 유전자-유전자간 상호작용 탐색)

  • Jung, Ji-Won;Yee, Jae-Yong;Lee, Suk-Hoon;Pa, Mi-Ra
    • The Korean Journal of Applied Statistics
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    • v.24 no.5
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    • pp.861-869
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    • 2011
  • One of the main objects of recent genetic studies is to understand genetic factors that induce complex diseases. If there are interactions between loci, it is difficult to find such associations through a single-locus analysis strategy. Thus we need to consider the gene-gene interactions and/or gene-environment interactions. The MDR(multifactor dimensionality reduction) method is being used frequently; however, it is not appropriate to detect interactions caused by a small fraction of the possible genotype pairs. In this study, we propose a relative risk interaction explorer that detects interactions through the calculation of the relative risks between the control and disease groups from each genetic combinations. For illustration, we apply this method to MDR open source data. We also compare the MDR and the proposed method using the simulated data eight genetic models.

Establishment of Plasma Working Standards for the Performance and Quality Assurance of NAT Screening Tests for HIV, HCV and HBV (HIV, HCV와 HBV 유전자 분석시약의 성능 및 품질관리용 Plasma Working Standards 제조에 관한 연구)

  • Kim, Myung Han;Cho, Youn Jung;Kwon, So-Yong;Cho, Nam Sun
    • The Korean Journal of Blood Transfusion
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    • v.23 no.2
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    • pp.152-161
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    • 2012
  • Background: Since Jan. 2012, for performance evaluation of viral reagents, analysis of domestic samples has been recommended in order to obtain approval from the KFDA when they are first introduced to Korea. This regulation requires the standard domestic materials driven from locally infected samples. We tried manufacturing the plasma working standards of HBV, HCV, and HIV NAT using a mixed titer of viral loads. Methods: Forty three HBV DNA positive plasmas, 25 HCV RNA positive plasmas, and 26 HIV RNA positive plasmas were evaluated according to viral load and genotype. Several plasma units, which had high-titer viral loads and the common viral genotypes in Korea, were selected as the source materials for each viral standard. To adjust the appropriate concentration based on the detectable range of variable viral reagents, the source plasma was diluted to several concentrations, divided into small vials, and analyzed for quantification. Results: The 13 plasma working standards, which had variable viral loads for the mixed titer performance panel of HIV, HCV, and HBV NAT, were produced. Conclusion: These national standard materials were first produced in order to supply the mixed titer performance panel for the viral NAT reagent of the level IV transfusion related high-risk group in Korea.

Seven-year experience with inherited metabolic disorders screening by tandem mass spectrometry (Tandem Mass Spectrometry를 이용한 선천성 대사이상질환 선별검사 7년간의 경험)

  • Song, Sean-Mi;Yoon, Hye-Ran;Lee, An-Na;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.21-25
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    • 2008
  • Purpose : In recent years, many countries have adopted newborn screening programs that use tandem mass spectrometry (MS/MS) to screen and the number of diseases screened has also increased. We began screening for inherited metabolic disorders using MS/MS in April, 2001. Our goal was to determine the overall prevalence of metabolic disorders and to assess the effectiveness of newborn screening by MS/MS in Korea. Methods : From April, 2001 to December, 2007, we screened newborns and high risk groups using MS/MS. Acylcarnitines and amino acids were extracted and butylated and were introduced into the inlet of MS/MS. Confirmatory testing including a repeat newborn screening, and urine organic acid and plasma amino acid analysis were performed on a case-by-case basis. Results : The total number of screened subjects 284,933 which comprised 251,799 neonates and 33,134 high risk subjects. The recall rate was 0.4% (1158 tests) and true positive cases were 117 (0.04%). Confirmed metabolic disorders (newborn/high risk group) were as follows; 78 (25/53) amino acid disorders, 27 (16/11) organic acid disorders, and 12 (5/7) fatty acid oxidation disorders. The estimated prevalence of inherited metabolic diseases in newborns was 1:5,000 and that in the total group was 1:2,000. Conclusion : Newborn screening by MS/MS improved the detection of many inherited metabolic disorders. We therefore propose that all newborns be screened by a MS/MS national program and followed-up using a systemic organization strategy.

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Evaluation of Human Papillomavirus Genotyping from Formalin-fixed Paraffin-embedded Specimens in Cervical Cancers (자궁경부암 파라핀 조직에서 인유두종바이러스 유전형 검사의 유용성 평가)

  • Jin, Hyunwoo
    • Journal of Life Science
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    • v.24 no.9
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    • pp.1025-1029
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    • 2014
  • Cervical carcinoma is the second leading cause of cancer-related deaths in women around the world, and it is associated with the Human Papillomavirus (HPV) infection. HPV genotyping is important for vaccine policy, etiology, natural history, and epidemiology studies. The use of formalin-fixed paraffin-embedded (FFPE) tissues for HPV genotyping by reverse blot hybridization assays (REBA) has not been clearly confirmed in retrospective studies. The aim of this study was to evaluate the usefulness and efficiency of FFPE tissues from cervical cancers for HPV genotyping. HPV genotypes were detected in 52 FFPE tissues from cervical carcinoma specimens by REBA. HPV was detected in 32 (61.5%) of 52 specimens from FFPE, among which 27 (84.4%) harbored single infections and 5(15.6%) contained multiple infections. The HPV single infections (27) were analyzed by high-risk type 18(8), 58(6), 16(5), 33(1), 35(1), 39(1), 56(1) and low risk type 11(2), 6(1), 70(1). The HPV multiple infections (5) included 16/18(2), 18/52(1), 16/56(1), 16/18/33(1). Please consider being more specific here. Do you mean the analysis? Please clarify what you mean by "included."Through this study, it has been determined that the FFPE specimen is feasible and can be used in HPV genotyping, as well as in retrospective studies.

Neurobiological Factors of Suicide (자살의 신경생물학적 요인)

  • Song, Hoo Rim;Woo, Young Sup;Jun, Tae Youn
    • Mood & Emotion
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    • v.10 no.1
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    • pp.13-21
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    • 2012
  • Suicide is a complex behavior associated with various neurobiological and psychosocial factors. It is considered that genetic polymorphism combined with environmental stress such as child-adolescent trauma make differences in neurobiological systems, which cause psychiatric disorders or pessimistic personality, impulse-aggressive behaviors, lack of judgment, and finally result in suicidal behavior. Much progress in the neurobiology of suicide has been made over the several decades. There seems to be a hereditary disposition to suicide independent of psychiatric disorder. The changes in neurotransmitters, neurohormones, neurotrophic factors, cytokines, lipid metabolisms related with their genetic polymorphism can contribute to disturbance of signal transductions and neuronal circuits vulnerable to suicide. It is likely that the main factors are dysfunctions of serotonin (5-HT) and hypothalamus-pituitary-adrenal (HPA) axis. Our understanding about the neurobiology of suicide is still limited. However, clinical practice could be assisted by neurobiological findings capable of making the detection of risk populations with higher sensitivity and the development of new treatment interventions. The settlement of biological markers in suicidal behaviors and their relationships is required.

Growth of artificial Pb$ZrO_3$/Pb$TiO_3$ superlattices by pulsed laser deposition and their electrical properties (펄스레이져 증착법을 이용한 Pb$ZrO_3$/Pb$TiO_3$ 산화물 인공격자의 성장 및 전기적 특성)

  • 최택집;이광열;이재찬
    • Proceedings of the Materials Research Society of Korea Conference
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    • 2003.11a
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    • pp.54-54
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    • 2003
  • 최근 새로운 개념에 물성 구현을 위한 강유전체 산화물 인공격자의 연구가 활발히 진행되고 있다. 본 연구에서는 펄스레이져 증착법을 이용하여 산소분압 100 mTorr와 증착온도 50$0^{\circ}C$에서 LSCO/MgO 기판 위에 PbTiO$_3$(PTO) 와 PbZrO$_3$(PZO)을 주기적으로 적층하여 강유전체 산화물 인공격자를 형성하였다. 인공격자의 주기는 1~100 unitcell 까지 변화시켰다. 적층주기와 두께 변화에 따른 PZO/PTO 인공격자의 성장과 전기적 특성에 대하여 관찰하였다. X선 회절분석을 통하여 PZO/PTO 인공격자는 주기가 25 unit cell 이하의 적층구조에서 초격자의 형성으로 인한 위성피크가 관찰되었으며, 그 이하의 낮은 주기(1~10 unitcell)에서는 위성피크와 강한 (100)과 (200) 성장거동을 보였다. 높은 주기에서는 c축 성장된 PTO와 a축 성장된 PZO 각각의 성장거동을 보였다. 적층 주기가 감소함에 따라 a축 성장된 PTO와 c축 성장된 PZO가 초격자를 형성하였다. 적층주기가 감소함에 따라 유전상수와 잔류분극값이 향상되었다. 유전상수는 1 unitcell 주기에서 800정도의 값을 보였고, 잔류분극값은 2 unitcell 주기에서 2Pr=38.7 $\mu$C/$\textrm{cm}^2$ 정도의 가장 큰 값을 나타냈다. 적층주기가 2 unitcell에서 두께가 감소함에 따라 유전상수가 감소하였고, 20 nm 까지 분극반전에 의한 capacitance-voltage 특성곡선의 이력 현상(강유전성)을 관찰하였다. 이러한 산화물 인공초격자에서의 유전상수와 잔류분극값의 향상에 대하여 논의 할 것이며, 임계크기효과 관점에서 나노사이즈(50 nm~5 nm)에서 인공초격자의 전기적 분극의 안정성에 대하여 또한 논의 할 것이다.소수성 가스의 경우70% 이상 향상되었음을 알 수 있었으며, 본 연구를 통해 광분해를 이용한 스크러버가 기존설비의 장.단점을 충분히 보완 가능한 환경 설비임을 확인할 수 있었다. duty로 구동하였으며, duty비 증가에 따라 pulse의 on-time을 고정하고 frequency를 변화시켰다. dc까지 duty비가 증가됨에 따라 방출전류의 양이 선형적으로 증가하였다. 전압을 일정하게 고정시키고 각 duty비에서 시간에 따라 방출전류를 측정한 결과 duty비가 높을수록 방출전류가 시간에 따라 급격히 감소하였다. 각 duty비에서 방출전류의 양이 1/2로 감소하는 시점을 에미터의 수명으로 볼 때 duty비 대 에미터 수명관계를 구해 높은 duty비에서 전계방출을 시킴으로써 실제의 구동조건인 낮은 duty비에서의 수명을 단시간에 예측할 수 있었다. 단속적으로 일어난 것으로 생각된다.리 폐 관류는 정맥주입 방법에 비해 고농도의 cisplatin 투여로 인한 다른 장기에서의 농도 증가 없이 폐 조직에 약 50배 정도의 고농도 cisplatin을 투여할 수 있었으며, 또한 분리 폐 관류 시 cisplatin에 의한 직접적 폐 독성은 발견되지 않았다이 낮았으나 통계학적 의의는 없었다[10.0%(4/40) : 8.2%(20/244), p>0.05]. 결론: 비디오흉강경술에서 재발을 낮추기 위해 수술시 폐야 전체를 관찰하여 존재하는 폐기포를 놓치지 않는 것이 중요하며, 폐기포를 확인하지 못한 경우와 이차성 자연기흉에 대해서는 흉막유착술에 더 세심한 주의가 필요하다는 것을 확인하였다. 비디오흉강경수술은 통증이 적고, 입원기간이 짧고, 사회로의 복귀가 빠르며, 고위험군에 적용할 수 있고, 무엇보다도 미용상의 이점이 크다는 면에서 자연기흉에 대해 유용한 치료방법임에는 틀림이 없으나 개흉술에 비해 재발율이 높고 비용이 비싸다는 문제가 제기되고 있는 만큼 더 세심한 주의와 장기 추적관찰이 필요하리라 사료된

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