• 제목/요약/키워드: genetic testing

검색결과 459건 처리시간 0.028초

Molecular Characterization of TEM-type $\beta$-Lactamases Identified in Cold-Seep Sediments of Edison Seamount (South of Lihir Island, Papua New Guinea)

  • Song Jae Seok;Jeon Jeong Ho;Lee Jung Hun;Jeong Seok Hoon;Jeong Byeong Chul;Kim Sang Jin;Lee Jung Hyun;Lee Sang Hee
    • Journal of Microbiology
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    • 제43권2호
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    • pp.172-178
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    • 2005
  • To determine the prevalence and genotypes of $\beta$-lactamases among clones of a metagenomic library from the cold-seep sediments of Edison seamount (10,000 years old), we performed pulse-field gel electrophoresis, antibiotic susceptibility testing, pI determination, and DNA sequencing analysis. Among the 8,823 clones of the library, thirty clones produced $\beta$-lactamases and had high levels of genetic diversity. Consistent with minimum inhibitory concentration patterns, we found that five ($167\%$) of thirty clones produced an extended-spectrum $\beta$-lactamase. 837- and 259-bp fragments specific to bla$_{TEM}$ genes were amplified, as determined by banding patterns of PCR amplification with designed primers. TEM­1 was the most prevalent $\beta$-lactamase and conferred resistance to ampicillin, piperacillin, and cephalothin. TEM-116 had a spectrum that was extended to ceftazidime, cefotaxime, and aztreonam. The resistance levels conferred by the pre-antibiotic era alleles of TEM-type $\beta$-lactamases were essentially the same as the resistance levels conferred by the TEM-type alleles which had been isolated from clinically resistant strains of bacteria of the antibiotic era. Our first report on TEM-type $\beta$-lactamases of the pre-antibiotic era indicates that TEM-type $\beta$-lactamases paint a picture in which most of the diversity of the enzymes may not be the result of recent evolution, but that of ancient evolution.

경주개(동경이)의 혈통확인을 위한 microsatellite DNA 다형성 분석 (Analysis of Microsatellite DNA Polymorphisms for Pedigree Verification in Kyungju Dog(Dongkyung-i).)

  • 이은우;최석규;조길재
    • 생명과학회지
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    • 제18권6호
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    • pp.902-906
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    • 2008
  • 경주지방에서 사육 중인 경주개(동경이) 51두를 대상으로 8개의 microsatellite marker을 이용하여 DNA형을 분석한 결과 대립 유전자 수는 $4{\sim}12$개(평균 8.5개)로 검출되었으며 Expected heterozygosit와 PIC는 각각 $0.6162{\sim}0.8746$(평균 0.7587)와 $0.5461{\sim}0.8512$(평균 0.7167)으로 나타났고, PEZ3, PEZ6, PEZ12, FHC2054 marker는 PIC가 0.7이상으로 나타났다. 이들 marker는 향후 동경이의 개체식별 및 친자확인에 유용하게 쓰일 수 있다. 공시재료 51두 중 사육가에 의해 혈통이 알려진 5두를 대상으로 microsatellite marker를 이용하여 혈통을 분석한 결과 3두에서 현재 가계도와 일치하지 않았다. 따라서 앞으로 더 많은 연구를 통해서 동경이에 대한 체계적인 혈통 정립이 이루어져야 할 것이다.

신생아 스크리닝으로 진단된 Alpha-methylacetoacetic Aciduria 증례 (A Neonate with Alpha-methylacetoacetic Aciduria Identified by Newborn Screening)

  • 이범희;김유미;김재민;김구환;유한욱
    • 대한유전성대사질환학회지
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    • 제12권2호
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    • pp.104-107
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    • 2012
  • 본 연구는 신생아 대사 이상 질환에 대한 광범위 스크리닝으로 매우 희귀한 아미노산 대사 이상 질환 중 하나인 Alpha-methylacetoacetic aciduria의 국내 첫 증례를 경험했기에 이를 보고하는 바이다. 신생아 스크리닝의 광범위한 시행으로 인해 향후 우리나라에도 알려지지 않은 희귀 유전성 대사 질환의 보고가 증가할 것으로 예측된다. 이 환자들에 대한 적절한 관리를 통해 질환의 자연경과와 장기적 예후에 대한 관찰이 필요하다.

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경남지역 내 돼지에서의 swine influenza virus (H1N1, H3N2) 감염률 조사 (Seroprevalence survey of swine influenza virus (H1N1, H3N2) in pigs in Gyeongnam area)

  • 장은희;하도윤;박동엽;이국천;허정호
    • 한국동물위생학회지
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    • 제34권3호
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    • pp.195-200
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    • 2011
  • Swine influenza is an acute respiratory disease prevalent in pig-growing areas all around the world and plays the roles of an intermediate host to be transmitted to mammals including human beings through a genetic recombination with the avian influenza virus. Recognizing that people could be contracted with swine influenza, this study set out to investigate the seroprevalence of individual and multiple infections with two subtypes (H1N1 and H3N2) of the swine influenza virus in pig farms in the Gyeongnam region according to age, area, and season, as well as to provide basic data for the prevention and control of swine influenza. Used in the study were total 904 swine sera that were not vaccinated against the influenza gathered from the pig farms in the Gyeongnam region from November, 2009 to October, 2010. HerdChek SIV (H1N1, H3N2) ELISA kit (IDEXX Laboratories, USA) was used for antibody testing against swine influenza. The test results show that 370 sera (40.9%) were infected with either H1N1 or H3N2 with 37.3% (337 sera) being contracted with H1N1, 13.1% (118 sera) with H3N2, and 9.4% (85) with both H1N1 and H3N2.

유전학 기반 학습 환경하에서 분류 시스템의 성능 향상을 위한 엔-버전 학습법 (An N-version Learning Approach to Enhance the Prediction Accuracy of Classification Systems in Genetics-based Learning Environments)

  • 김영준;홍철의
    • 한국정보처리학회논문지
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    • 제6권7호
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    • pp.1841-1848
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    • 1999
  • 델보는 주어진 사례의 집합으로부터 이들 사례들을 분류할 수 있는 베이지안 분류 규칙들로 이루어진 규칙 집합을 습득하는 유전학 기반 귀납적 학습 시스템이다. 규칙 집합의 습득과정에서 델보가 당면하게 되는 한 가지 문제점은 학습 과정이 최적의 규칙 집합이 아닌 지역 최적치를 습득하고 종료하는 경우가 가끔 발생한다는 것이다. 다른 하나의 문제점은 훈련 사례에 대한 경우와는 달리 새로운 평가 사례에 대해 분류 성능이 현저히 저하되는 규칙 집합을 습득하는 경우가 가끔 발생한다는 것이다. 본 논문에서는 이러한 문제점을 해결하여 보다 성능이 향상된 분류 시스템을 구축하기 위한 기법으로 엔-버전 시스템을 구축함으로써 분류 시스템의 전체적인 성능을 향상시키는 기법이다. 엔-버전 학습법의 구현을 위해 다수의 규칙 집합을 이용하여 최종 분류 결과를 도출해 내기 위한 기법과 습득된 규칙 합들로부터 분류 시스템을 구축하기 위한 최적의 규칙 집합의 조합을 찾기 위한 기법을 제시하고 다수의 사례 집합을 이용하여 엔-버전 학습법이 델보의 학습 환경에 미치는 영향을 평가하였다.

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Distribution of five common subtypes of spinocerebellar ataxia in the Korean population

  • Choi, In-Hee;Kim, Gu-Hwan;Lee, Beom-Hee;Choi, Jin-Ho;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • 제11권2호
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    • pp.69-73
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    • 2014
  • Purpose: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease for which more than 30 subtypes have been identified. However, 5 subtypes, SCA1, SCA2, SCA3, SCA6, and SCA7, account for more than 60% of cases. In this study, we report the distribution of these 5 subtypes in Korean patients. Materials and Methods: Six hundred and thirty-eight unrelated patients with a presumptive diagnosis of SCA were included in this study. Trinucleotide (CAG) repeat number (TNR) repeat number was determined using fluorescently labeled primers and fragment analysis. Results: A total of 128 unrelated patients (20.1% of all individuals tested) tested positive for SCA subtypes, including SCA1 (5 patients, 3.9% of those testing positive), SCA2 (38 patients, 29.7%), SCA3 (30 patients, 23.4%), SCA6 (39 patients, 30.5%), and SCA7 (16 patients, 12.5%). The mean copy number of pathogenic TNR alleles was $45{\pm}8.5$ for SCA1, $42{\pm}3.1$ for SCA2, $72{\pm}5.4$ for SCA3, $23{\pm}1.5$ for SCA6, and $50{\pm}11.4$ for SCA7. TNR copy number was inversely correlated with onset age in SCA2, SCA6, and SCA7. Conclusion: SCA2, SCA3, and SCA6 are common SCA subtypes in Korean patients and could be screened as a first-line test. Expanded pathogenic allele size was associated with early onset age.

First trimester screening for trisomy 18 by a combination of nuchal translucency thickness and epigenetic marker level

  • Lee, Da Eun;Kim, Shin Young;Kim, Hyun Jin;Park, So Yeon;Kim, Min Hyoung;Han, You Jung;Ryu, Hyun Mee
    • Journal of Genetic Medicine
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    • 제14권1호
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    • pp.1-7
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    • 2017
  • Purpose: The aim of this study was to assess the diagnostic efficacy of noninvasive prenatal screening for trisomy 18 by assessing the levels of unmethylated-maspin (U-maspin) and fetal nuchal translucency (NT) thickness during the first trimester of pregnancy. Materials and Methods: A nested case-control study was conducted using maternal plasma samples collected from 65 pregnant women carrying 11 fetuses with trisomy 18 and 54 normal fetuses. We compared the U-maspin levels, NT thicknesses, or a combination of both in the first trimester between the case and control groups. Results: U-maspin levels and NT thickness were significantly elevated in the first trimester in pregnant women carrying fetuses with trisomy 18 when compared to those carrying normal fetuses (27.2 vs. 6.6 copies/mL, P<0.001 for U-maspin; 5.9 vs. 2.0 mm, P<0.001 for NT). The sensitivities of the U-maspin levels and NT thickness in prenatal screening for fetal trisomy 18 were 90.9% and 90.9%, respectively, with a specificity of 98.1%. The combined U-maspin levels and NT thickness had a sensitivity of 100% in prenatal screening for fetal trisomy 18, with a specificity of 98.1%. Conclusion: A combination of U-maspin levels and NT thickness is highly efficacious for noninvasive prenatal screening of fetal trisomy 18 in the first trimester of pregnancy.

Effect of Customized Fertilizer Application and Soil Properties on Amino Acids Composition in Rice Grain

  • Sung, Jwakyung;Lee, Yejin;Chun, Hyenjung;Ha, Sangkeun;Sonn, Yeonkyu;Lee, Jongsik
    • 한국토양비료학회지
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    • 제48권5호
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    • pp.464-468
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    • 2015
  • Our government has performed to support the nation-wide application of customized fertilizer based on soil-testing results and crop nutrient balance in order to promote the environment-friendly agriculture and to respond the global environment guide-line since 2010. This study was performed at the selected local paddy fields (Hwaseong-si, Uiseong-gun and Miryang-si) with different soil chemical properties in 2012. The contents of amino acids measured showed an increasing trend with fertilization, and glutamic acid was the most abundant amino acid followed by aspartic acid, leucine and alanine. However, valine, isoleusine, tyrosine and lysine were not significantly affected by fertilization. The significant differences in grain N, expressed as a crude protein, and amino acids dose was observed between experimental sites (p<0.001), treatments (p<0.01 to 0.001) and interaction of both factors (p<0.01 to 0.001). In our experiment the following order of carbon skeleton backbones to produce amino acids was observed irrespective of experiment sites and fertilization: ${\alpha}$-ketoglutarate > oxalate > pyruvate > 3-phosphoglycerate > phosphoenolpyruvate. In conclusion, customized fertilizer had no difference in amino acids compared to the conventional-NPK practice which was higher than in no fertilization, and also the normal paddy represented slightly higher amino acids compared to the reclaimed. Further study based on the present results is required to investigate what is main factor to amino acids between genetic and environmental factors.

Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1

  • Kim, Hyeong Jung;Na, Ji-Hoon;Lee, Young-Mock
    • Clinical and Experimental Pediatrics
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    • 제62권2호
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    • pp.55-61
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    • 2019
  • Purpose: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK ) gene. Our study aimed to determine whether the age of onset is correlated with CTG repeat length in a population of pediatric patients with DM1. Methods: We retrospectively identified 30 pediatric patients with DM1 that underwent DMPK testing, of which the clinical data of 17 was sufficient. The cohort was divided into 2 subgroups based on the clinical phenotype (congenital-onset vs. late-onset) and number of CTG repeats (<1,000 vs. ${\geq}1,000$). Results: We found no significant difference between the age of onset and CTG repeat length in our pediatric patient population. Based on clinical subgrouping, we found that the congenital-onset subgroup was statistically different with respect to several variables, including prematurity, rate of admission to neonatal intensive care unit, need for respiratory support at birth, hypotonia, dysphagia, ventilator dependence, and functional status on last visit, compared to the late-onset subgroup. Based on genetic subgrouping, we found a single variable (poor feeding in neonate) that was significantly different in the large CTG subgroup than that in the small CTG subgroup. Conclusion: Clinical variables exhibiting statistically significant differences between the subgroups should be focused on prognosis and designing tailored management approaches for the patients; our findings will contribute to achieve this important goal for treating patients with DM1.

Public Perception of a Criminal DNA Database in Korea

  • Lee, Ji Hyun;Cho, Sohee;Kim, Moon Young;Lee, Seung Hwan;Lee, Hwan Young;Lee, Soong Deok;LoCascio, Sarah Prusoff;Jung, Kyu Won
    • Asian Journal for Public Opinion Research
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    • 제7권2호
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    • pp.75-93
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    • 2019
  • Background: Since 2010, Korea has maintained a DNA database of those convicted of or awaiting trial for certain crimes. There have been proposals to expand the list of crimes included in this database, or conversely, omit certain crimes if they are committed during protests. An understanding of the feelings of the public as we consider the ethical, legal, and social aspects of a DNA database and as revisions to laws are made is required. Methodology: Questions related to the DNA database were included in the nationally representative Korean Academic Multimode Open Survey (KAMOS) panel (June-August 2016). Results: Of 2,000 randomly selected panel members, 1,013 respondents participated in this survey, including 89.2% who supported the existence of a criminal DNA database. The current system of storing DNA profiles until a suspect's acquittal or a convict's death was supported by 79.5% of respondents. In addition, 70.8% of respondents agreed with the expansion of crime categories included in the criminal database. Many (93.4%) respondents favored genetic testing and data storage to determine the identity and cause of death for people who die of unnatural causes. Some differences in attitude related to social class were noted, with those who self-identified as members of the upper class more likely to support the database and its expansion to include additional crimes than those who self-identified as middle or lower class. Conclusion: Our findings suggest that Koreans generally support the criminal DNA database.