• 대한유전성대사질환학회지
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• 제5권1호
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• pp.108-115
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• 2005

Inherited metabolic diseases (IMD) comprise a large class of genetic diseases involving disorders of metabolism. The majorities are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. Because of the multiplicity of conditions, many different diagnostic tests are used for screening of IMD. Molecular genetic diagnosis is the detection of pathogenic mutations in DNA and/or RNA samples and is becoming a much more common practice in medicine today. The purpose of molecular genetic testing in IMD includes diagnostic testing, pre-symptomatic testing, carrier screening, prenatal diagnosis, preimplantation testing, and population screening. However, because of the complexity, difficulty in interpreting the result, and the ethical considerations, an understanding of technical, conceptual, and practical aspects of molecular genetic diagnosis is mandatory.

• Genes and Genomics
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• 제40권12호
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• pp.1339-1349
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• 2018

Cerebral palsy (CP) is a non-progressive neurological disease, of which susceptibility is linked to genetic and environmental risk factors. More and more studies have shown that CP might be caused by multiple genetic factors, similar to other neurodevelopmental disorders. Due to the high genetic heterogeneity of CP, we focused on investigating related molecular pathways. Ten children with CP were collected for whole-exome sequencing by next-generation sequencing (NGS) technology. Customized processes were used to identify potential pathogenic pathways and variants. Three pathways (axon guidance, transmission across chemical synapses, protein-protein interactions at synapses) with twenty-three genes were identified to be highly correlated with CP. This study showed that the three pathways associated with CP might be the molecular mechanism of pathogenesis. These findings could provide useful clues for developing pathway-based pharmacotherapies. Further studies are required to confirm potential roles for these pathways in the pathogenesis of CP.

• 한국콘텐츠학회논문지
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• 제15권3호
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• pp.252-264
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• 2015

본 연구의 목적은 블로그에 나타난 임신 여성의 산전 기형아 검사 및 양수검사 관련 교육요구를 파악하기 위하여 총 7개의 국내 인터넷 블로그를 분석하였다. 본 연구는 두 단계로 이루어졌다. 1 단계는 2011년 10월 31일까지 6년간 7개 블로그 중 6개 블로그에 게시된 내용 중 산전 기형아 검사 389건을 통하여 연구의 분석틀을 마련하였다. 2 단계에서는 '맘스홀릭 베이비'에 게시된 산전 기형아 검사에 관한 질문 100건, 양수 검사에 관한 질문 200건과 댓글 1,665건을 2011년 12월 텍스트화하고 산전 기형아 검사와 양수검사의 건수, 검사 이유 및 검사와 관련된 문제점을 분석하였다. 그 결과, 임신부들은 산전 기형아 검사와 양수검사와 관련하여 검사의 용어, 목적 및 임신 주수에 따른 검사 지식이 부족하였고, 양수 검사를 권유 받은 임신부 중 56.5%가 불안과 두려움을 호소하였다. 양수검사에 관한 찬성과 반대 건수를 분석한 결과, 찬성 보다는 반대 건수가 더 많았고, 양수검사를 권유 받은 자 중 33.9%는 양수검사를 받지 않았다. 이상의 결과에서 보듯이 의료 기관 서비스 안에서 임신 여성과 가족들에게 임신 주수에 따른 산전 기형아 검사에 관한 교육 및 지지가 강화될 필요가 있다. 이를 위하여 산전 클리닉 외래의 상담 및 교육 서비스 기능을 강화하고, 유전 상담 전문가를 추가로 배치할 필요가 있으며 인터넷 보급률 증가와 현대 임신 여성이 선호하는 커뮤니케이션 방식을 고려하여 온라인 건강 정보 사이트 운영 및 콘텐츠 개발에 관심을 기울일 필요가 있다. 또한 본 연구결과는 기형아 검사 후 낙태 허용범위 기준에 대한 논의 시 기초자료로 활용될 수 있을 것이다.

• Korean Journal of Radiology
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• 제24권5호
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• pp.378-383
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• 2023

• Asian Pacific Journal of Cancer Prevention
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• 제16권18호
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• pp.8595-8598
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• 2016

Background: Decision making modalities for screening for many cancer conditions and different stages have become increasingly complex. Computer-based risk assessment systems facilitate scheduling and decision making and support the delivery of cancer screening services. The aim of this article was to survey electronic risk assessment system as an appropriate tool for the prevention of cancer. Materials and Methods: A qualitative design was used involving 21 face-to-face interviews. Interviewing involved asking questions and getting answers from exclusive managers of cancer screening. Of the participants 6 were female and 15 were male, and ages ranged from 32 to 78 years. The study was based on a grounded theory approach and the tool was a semi-structured interview. Results: Researchers studied 5 dimensions, comprising electronic guideline standards of colorectal cancer screening, work flow of clinical and genetic activities, pathways of colorectal cancer screening and functionality of computer based guidelines and barriers. Electronic guideline standards of colorectal cancer screening were described in the s3 categories of content standard, telecommunications and technical standards and nomenclature and classification standards. According to the participations' views, workflow and genetic pathways of colorectal cancer screening were identified. Conclusions: The study demonstrated an effective role of computer-guided consultation for screening management. Electronic based systems facilitate real-time decision making during a clinical interaction. Electronic pathways have been applied for clinical and genetic decision support, workflow management, update recommendation and resource estimates. A suitable technical and clinical infrastructure is an integral part of clinical practice guidline of screening. As a conclusion, it is recommended to consider the necessity of architecture assessment and also integration standards.

• Journal of Life Science
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• 제9권1호
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• pp.14-16
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• 1999

Genetic variability was monitored by random amplified polymorphic DNA-polymerase chain reaction (RAPD-PCR) in dicofol-susceptible (S), dicofol-resistant (R) and its reverse-selected (RS) strains of two-spotted spider mite, of Tetranychus urticae. Before the reverse-selection, RS strain, selected reversely from R strain, was 23-fold resistance ratio at {TEX}$LC_{50}${/TEX} to S strain. The resistance was started to in incline slowly to the resistance level of S strain after one year, and the resistance ratio was 4-fold in the 7 years after then. PCR-amplification of T. urticae DNA showed polymorphism in the amplifications with 12 primers in 100 kinds of arbitrary DNA sequences. RAPD amplification with primer OPR-12 (5`-ACAGGTGCGT-3`) showed amplified bands at 1,000 base pair in the S-and RS-strain, and at 350 base pair in R-strain. The results of polymorphism are genetic variabilities derived from development and selection of resistance in each strain. The peculiarly amplified fragments were guessed to participate in dicofol resistance. From the analysis of genetic similarity, it is inferred the gene composition of S-and RS-strain is much closer than that of R-strain.

• Asian Pacific Journal of Cancer Prevention
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• 제16권6호
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• pp.2107-2117
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• 2015

Thyroid cancer is the most common endocrine neoplasia. The medullary thyroid carcinoma (MTC) is one of the most aggressive forms of thyroid malignancy,accounting for up to 10% of all types of this disease. The mode of inheritance of MTC is autosomal dominantly and gain of function mutations in the RET proto-oncogene are well known to contribute to its development. MTC occurs as hereditary (25%) and sporadic (75%) forms. Hereditary MTC has syndromic (multiple endocrine neoplasia type 2A, B; MEN2A, MEN2B) and non-syndromic (Familial MTC, FMTC) types. Over the last two decades, elucidation of the genetic basis of tumorigenesis has provided useful screening tools for affected families. Advances in genetic screening of the RET have enabled early detection of hereditary MTCs and prophylactic thyroidectomy for relatives who may not show any symptom sof the disease. In this review we emphasize the main RET mutations in syndromic and non syndromic forms of MTC, and focus on the importance of RET genetic screening for early diagnosis and management of MTC patients, based on American Thyroid Association guidelines and genotype-phenotype correlation.

• 근관절건강학회지
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• 제26권3호
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• pp.184-194
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• 2019

Purpose: There has been a considerable increase in the number of women giving birth at advanced age. The genetic screening of such women is highly desirable. Clinical nurses, however, are not adequately trained to assist such clients. This study aims at identifying the educational needs of nurses in order for them to provide better care and treatment for such women. Methods: 206 South Korean clinical nurses participated in this study. Study variables were measured by nurses' attitudes toward terminating pregnancy (ATP), knowledge of prenatal genetic screening and diagnosis (K-PGSD), and information needs for prenatal genetic screening and diagnosis (I-PGSD). The statistical analysis included T-test, analysis of variance and Pearson's Correlation Coefficient. Results: Mean scores were 34.57±5.73 for ATP, 16.44±3.04 for K-PGSD, and 78.81±10.95 for I-PGSD. The findings demonstrate that nurses have high information needs (I-PGSD) to take better care of women who have positive results from their amniocentesis tests. Conclusion: Information needs among clinical nurses are not currently being met. Education for nurses must include training in counseling to encourage patients' autonomous decision-making regarding their pregnancies.

• Clinical and Experimental Reproductive Medicine
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• 제38권3호
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• pp.126-134
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• 2011

Preimplantation genetic diagnosis (PGD) is gradually widely used in prevention of gene diseases and chromosomal abnormalities. Much improvement has been achieved in biopsy technique and molecular diagnosis. Blastocyst biopsy can increase diagnostic accuracy and reduce allele dropout. It is cost-effective and currently plays an important role. Whole genome amplification permits subsequent individual detection of multiple gene loci and screening all 23 pairs of chromosomes. For PGD of chromosomal translocation, fluorescence $in-situ$ hybridization (FISH) is traditionally used, but with technical difficulty. Array comparative genomic hybridization (CGH) can detect translocation and 23 pairs of chromosomes that may replace FISH. Single nucleotide polymorphisms array with haplotyping can further distinguish between normal chromosomes and balanced translocation. PGD may shorten time to conceive and reduce miscarriage for patients with chromosomal translocation. PGD has a potential value for mitochondrial diseases. Preimplantation genetic haplotyping has been applied for unknown mutation sites of single gene disease. Preimplantation genetic screening (PGS) using limited FISH probes in the cleavage-stage embryo did not increase live birth rates for patients with advanced maternal age, unexplained recurrent abortions, and repeated implantation failure. Polar body and blastocyst biopsy may circumvent the problem of mosaicism. PGS using blastocyst biopsy and array CGH is encouraging and merit further studies. Cryopreservation of biopsied blastocysts instead of fresh transfer permits sufficient time for transportation and genetic analysis. Cryopreservation of embryos may avoid ovarian hyperstimulation syndrome and possible suboptimal endometrium.

• Journal of Microbiology and Biotechnology
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• 제30권11호
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• pp.1670-1679
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• 2020

The substantial use of fungal enzymes to degrade lignocellulosic plant biomass has widely been attributed to the extensive requirement of powerful enzyme-producing fungal strains. In this study, a two-step screening procedure for finding cellulolytic fungi, involving a miniaturized culture method with shake-flask fermentation, was proposed and demonstrated. We isolated 297 fungal strains from several cellulose-containing samples found in two different locations in Thailand. By using this screening strategy, we then selected 9 fungal strains based on their potential for cellulase production. Through sequence-based identification of these fungal isolates, 4 species in 4 genera were identified: Aspergillus terreus (3 strains: AG466, AG438 and AG499), Penicillium oxalicum (4 strains: AG452, AG496, AG498 and AG559), Talaromyces siamensis (1 strain: AG548) and Trichoderma afroharzianum (1 strain: AG500). After examining their lignocellulose degradation capacity, our data showed that P. oxalicum AG452 exhibited the highest glucose yield after saccharification of pretreated sugarcane trash, cassava pulp and coffee silverskin. In addition, Ta. siamensis AG548 produced the highest glucose yield after hydrolysis of pretreated sugarcane bagasse. Our study demonstrated that the proposed two-step screening strategy can be further applied for discovering potential cellulolytic fungi isolated from various environmental samples. Meanwhile, the fungal strains isolated in this study will prove useful in the bioconversion of agricultural lignocellulosic residues into valuable biotechnological products.