• 제목/요약/키워드: Genetic screening

검색결과 504건 처리시간 0.033초

감자 특이 Internal Control DNA 증폭용 Primer와 이를 이용한 유전자 변형 감자의 경쟁적 이중 PCR 검정법 (Primer for the Potato Specific Internal Control DNA and Screening Method for the Genetically Modified Potatoes by Competitive Duplex-PCR)

  • 서효원;이정윤;조현묵;김숭열
    • Journal of Plant Biotechnology
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    • 제29권4호
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    • pp.235-240
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    • 2002
  • 현재 유전자 변형 작물의 검정에는 CaMV 35S프로모터 혹은 NOS 터미네이터 등과 같이 형질전환에 널리 이용하는 유전인자를 검출하기 위한 PCR 기술이 널리 이용되고 있다. 본 연구에서는 유전자변형 감자를 검정하기 위한 새로운 기술로서 감자특이 internal control과 CaMV 35S 프로모터 혹은 NOS 터미네이터에 특이적인 프라이머를 이용한 경쟁적 이중PCR 방법을 개발하였다. 감자 유전자의 RAPD 결과 이용한 모든 품종에서 약 530 bp인 homozygous DNA 밴드를 증폭하는 특이 primer (rAGU4A)를 찾아 감자특이 internal control 증폭용으로 이용하였다. 이 프라이머에 의해 증폭되는 DNA는 TC 염기의 반복 빈도가 높은 repetitive 혹은 microsatellite DNA (AF541972)로 판단되었다. 이와 같은 단일 프라이머 internal control 증폭용으로 이용한 경쟁적 이중 PCR은 비특이적 PCR 산물을 줄일 수 있고, 기존 방법들에 비해 경제적이다. 현재 상품화되어 있는 유전자 변형 감자품종인 'New Leaf'의 경우도 형질전환에 이용한 유전인자로 CaMV 35S 프로모터와 NOS 터미네이터가 모두 이용되었으므로 이 기술을 이용할 경우 현재까지 상품화된 유전자 변형감자들의 효율적인 검정 기술로 이용될 수 있을 것으로 기대된다.

한국에서의 유전성 대사 질환에 대한 탄뎀 매스 검사의 경제성 분석 (A cost-benefit analysis on tandem mass spectrometry of inherited metabolic diseases in Korea)

  • 류형옥;이동환;최태윤;윤혜란
    • Journal of Genetic Medicine
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    • 제4권1호
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    • pp.53-63
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    • 2007
  • 탄뎀 매스를 이용한 신생아 대사 이상 검사는 여과지에 묻힌 소량의 혈액으로 기존의 스크리닝 검사로는 진단되지 않는 30여 종의 아미노산 대사 이상 질환, 유기산 대사 이상 질환, 그리고 여러 지방산 대사 이상 질환을 선별할 수 있는 효과적인 방법이다. 연구자들은 이러한 탄뎀 매스 검사를 집단 선별 검사로 사용하였을 경우 경제적 효용성에 대해 알아보았다. 2001년 4월부터 2004년 3월까지 3년간 총 79,179명의 정상 신생아를 대상으로 탄뎀 매스 검사를 시행하였다. 탄뎀매스 검사를 이용하여 선별 검사를 한 경우, 탄뎀 매스 검사 비용 및 질환이 진단되었을 때의 입원비, 각종 검사료, 특수 분유 비용, 각 질환에 따른 치료비를 합하여 계산하였고, 탄뎀 매스 검사를 시행하지 않은 경우에는 발생한 정신지체아의 보호 양육비 및 이들이 정상적인 생활을 하였을 경우 이들의 노동력을 합한 비용을 계산하여 비교분석하였다. 79,179명의 건강한 신생아 가운데 유전성 대사 이상 질환으로 진단받은 신생아는 총 28명으로 2,827명 당 1명이었다. 이 중 아미노산 대사 이상 질환은 총 13례로 각각 페닐케톤뇨증 4례, tetrahydrobiopterin (BH4) 결손증 2례, 시트룰린혈증 3례, 타이로신혈증 1례, 단풍당뇨증 2례, 고오르니틴혈증-고암모니아혈증-고호모시트룰린혈증증후군(hyperammonemia-hyperornithinemia-homocitrullinemia syndrome, HHH syndrome) 1례가 발견되었고, 유기산 대사 이상 질환은 총 10례로 프로피온산뇨증 4례, 이소발레릭산뇨증 3례, 3-methylcrotonylglycinemia 1례, 글루타릭산뇨증 1형 1례가 발견되었으며, 지방산 대사 이상 질환은 총 5례로 long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) 결손증 3례, very long chain acyl-CoA dehydrogenase (VLCAD) 결손증 1례, short-chain acyl-CoA dehydrogenase (SCAD) 결손증 1례가 발견되었다. 탄뎀 매스 검사를 시행하였을 때와 시행하지 않았을 때 들어가는 총 비용을 비교한 결과, 페닐케톤뇨증은 1:2.26, BH4 결손증은 1:1.68, 시트룰린혈증은 1:3.74, 단풍당뇨증은 1:4.54, 프로피온산뇨증은 1:2.24, 이소발레릭산뇨증은 1:2.66, 글루타린산뇨증 1형은 1:0.39, LCHAD 결손증은 1:5.03로 탄뎀 매스 검사를 시행하는 것이 시행하지 않는 것 보다 경제적 이득이 있는 것으로 나타났으며, 50만 명의 신생아 모두에게 탄뎀 매스 검사를 시행하더라도 전체적으로 1.40배의 경제적 이득이 발생함을 알 수 있었다. 또한 탄뎀 매스 검사는 97.67%의 민감도와 99.28%의 특이도를 나타내었고, 0.05%의 재검률(recall rate)과 6.38%의 양성 예측치를 나타내어 진단적인 가치가 우수함을 알 수 있었다. 유전성 대상 질환에 대한 집단 선별 검사로써의 탄뎀 매스 검사를 시행하는 것이 시행하지 않는 것 보다 경제적임을 알수 있다.

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Bifid Rib Jaw Cyst Basal Cell Nevus Syndrome: A Case Report

  • Anand, Ruchi M.;Mishra, Sunil S.;Degwekar, Shirish S.;Bhowate, Rahul R.;Motwani, Mukta B.;Rawlani, Shivlal M.
    • Journal of Korean Dental Science
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    • 제4권1호
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    • pp.33-37
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    • 2011
  • Gorlin-Goltz syndrome is an autosomal dominant disorder with a high degree of penetrance. It is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and plantar pits and ectopic calcifications of falx cerebri. The presence of two major and one minor criteria or one major and three minor criteria are necessary to establish a diagnosis. Early diagnosis and treatment of Gorlin-Goltz syndrome, as well as family screening and genetic counseling are essential as it may be associated in 10% of patients with aggressive basal cell carcinoma and malignant neoplasias. We report here a patient with Gorlin-Goltz syndrome.

An Unusual Presentation of Rectal Carcinoma in a Child

  • Tiwari, Charu;Zadpe, Ashish;Rathi, Pravin;Shah, Hemanshi
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제21권1호
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    • pp.72-75
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    • 2018
  • Colorectal carcinoma is a well-known malignancy in adults. However, it is rare in children. Besides, it also has different behaviour in paediatric age-group and usually presents with non-specific symptoms like abdominal pain, weight loss, and anaemia. This usually leads to delay in diagnosis. Adenocarcinoma in children has unfavourable tumour histology (mucinous subtype) and advanced disease stage at presentation which lead to poorer prognosis in children. Family history, genetic typing and sibling screening are essential components of management as this malignancy is frequently seen associated with hereditary syndromes. We describe a case of unusual presentation of rectal carcinoma in a 12-year-old girl.

Study on Inheritance of Potato virus X Resistance in Capsicum annuum

  • Shi, Jinxia;Choi, Do-Il;Kim, Byung-Dong;Kang, Byoung-Cheorl
    • The Plant Pathology Journal
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    • 제24권4호
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    • pp.433-438
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    • 2008
  • Potato virus X (PVX) resistance in potato is one of the best-characterized resistance models, however little is known in pepper. To evaluate the resistance to PVX in Capsicum annuum, a total of eleven pepper accessions were used for resistance screening against two PVX strains, USA and UK3. None of them were resistant against strain UK3, whereas four resistant genotypes were found against strain USA, three of which were further characterized. Two unlinked dominant genes were identified for both genotypes Bukang and Perennial; resistance in the genotype CV3 seemed to be conferred by two complementary dominant genes. These results demonstrated that the resistance to PVX in C. annuum is different from that in potato. This is the first report on genetic analysis of PVX resistance in C. annuum.

An Efficient and Stable Method for the Transformation of Heterogeneous Genes into Cephalosporium acremonium Mediated by Agrobacterium tumefaciens

  • XU WEI;ZHU CHUNBAO;ZHU BAOQUAN
    • Journal of Microbiology and Biotechnology
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    • 제15권4호
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    • pp.683-688
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    • 2005
  • A transformation system mediated by Agrobacterium tumefaciens is routinely used for the genetic engineering of plants. Here, we report an efficient and stable method for transformation of heterogeneous genes into an industrial Cephalosporium acremonium by using a similar transformation system established in plants. Both the phleomycin-resistant gene and vgb gene were used as screening markers to confirm the success of transformation by either Southern hybridization or PCR amplification. It was found that acetosyringone (AS) was necessary only for protoplast transformation and the heterogeneous genes transferred were integrated into the genome of C. acremonium. The transformation efficiency obtained with this system was much higher than the conventional techniques used for transformation of C. acremonium.

Enumeration and Recovery of Bacterial Isolates from Ruminants Fed with Different Dietary Regimes and Their Antibacterial Activity

  • Pattnaik, P.;Grover, Sunita;Batish, V.K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제14권6호
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    • pp.811-815
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    • 2001
  • The study evaluated different synthetic and semisynthetic media for maximal recovery of rumen bacteria and expression of their antibacterial activity. Rumen Glucose Cellobiose Agar (RGCA) medium was found to be the best for recovery of rumen bacteria. However, L-10 medium was the best for expression of antibacterial activity of ruminal isolates followed by Easy, M-10, RGCA and M-98-5 medium. The present study recommends the use of L-10 medium as the medium of choice for screening of antibacterial activity of ruminal isolates. Comparative evaluation of bacterial counts on different dietary regimes indicated significant difference between different growth media on a specific diet and between diets on specific growth media within a species. However, there is no overall significant difference between total bacterial counts obtained from rumen liquor of cattle and buffalo with respect to either the feeding regime or growth media. Feeding straw based diet to the animal is the best for high recovery of rumen bacteria.

주의력결핍 과잉행동장애 (Attention deficit hyperactivity disorder)

  • 은소희;은백린
    • Clinical and Experimental Pediatrics
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    • 제51권9호
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    • pp.935-943
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    • 2008
  • Attention deficit hyperactivity disorder (ADHD) is a neurobehavioral developmental disorder characterized by a persistent pattern of inattention and/or hyperactivity, as well as forgetfulness, poor impulse control or impulsivity, and distractibility. The recommended evaluation includes documenting the type and severity of ADHD symptoms, verifying the presence of normal vision and hearing, screening for comorbid psychological conditions, reviewing the child's developmental history and school performance, and applying objective measures of cognitive function. Prevailing opinion characterizes ADHD as a disorder of executive function attributable to abnormal dopamine transmission in the frontal lobes and frontostriatal circuitry. A clearly defined etiology remains unknown, but studies suggest a strong genetic link. The aim of treatment is to decrease symptoms, enhance functionality, and improve well-being for the child and his or her close contacts. Stimulants remain the pharmacological agents of first choice for the management of ADHD, and psychosocial, behavioral and educational strategies that enhance specific behaviors may improve educational and social functioning in children with ADHD.

Inherited Macrothrombocytopenia in a Cavalier King Charles Spaniel

  • Kim, Hyo-jin;Choi, Seok-jin;Kim, Seung-Gon;Park, Hee-Myung
    • 한국임상수의학회지
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    • 제34권4호
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    • pp.272-274
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    • 2017
  • A 1-year-old intact male Cavalier King Charles Spaniel was presented with a ruptured anal sac. On routine preanesthetic screening tests for surgical resection, the thrombocytopenia was observed by an impedance-type autoanalyzer. A peripheral blood smear was used as a follow-up test and giant platelets were seen on the smear. DNA assay of this patient confirmed that the cause of the platelet abnormalities in this patient was genetic mutation. To our knowledge, this is the first case report of macrothrombocytopenia confirmed based on the DNA assay results, in a Cavalier King Charles Spaniel in Korea.