• Journal of Genetic Medicine
• /
• v.7 no.1
• /
• pp.24-36
• /
• 2010

Colorectal cancer is one of the most steeply increasing malignancies in Korea. Among 398,824 new patients recorded by the Korea Central Cancer Registry between 2003 and 2005, 47,915 cases involved colorectal cancers, accounting for 12.0 % of all malignancies. In 2002, total number of colorectal cancer cases had accounted for 11.2 % of all malignancies. Hereditary syndromes are the source of approximately 5% to 15% of overall colorectal cancer cases. Hereditary colorectal cancers are divided into two types: hereditary nonpolyposis colorectal cancer (HNPCC), and cancers associated with hereditary colorectal polyposis, including familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome, juvenile polyposis, and the recently reported hMutYH (MYH)-associated polyposis (MAP). Hereditary colorectal cancers have unique clinical features distinct from sporadic cancer because these are due to germline mutations of the causative genes; (i) early age-of-onset of cancer, (ii) frequent association with synchronous or metachronous tumors, (iii) frequent association with extracolonic manifestations. The management strategy for patients with hereditary colorectal cancer is quite different from that for sporadic cancer. Furthermore, screening, genetic counseling, and surveillance for at-risk familial member are also important. A well-organized registry can plays a central role in the surveillance and management of families affected by hereditary colorectal cancers. Here, we discuss each type of hereditary colorectal cancer, focusing on the clinical and genetic characteristics, management, genetic screening, and surveillance.

• Journal of Genetic Medicine
• /
• v.6 no.1
• /
• pp.8-24
• /
• 2009

Understanding the genetic background of hearing loss is important since almost 50% of the cases of profound hearing loss are caused by genetic factors. Until now, more than 150 causative genes have been identified. In this review, classification of genetic hearing loss (syndromic versus non-syndromic, recessive versus dominant, X-linked and mitochondrial), pitfalls in elucidating causative genes, anatomy of the inner ear, introduction of the most common syndromic hearing loss, introduction of the most common non-syndromic hearing loss-causing genes, mitochondrial and multifactorial hearing losses were discussed. Moreover, clinical approaches to the patients with hereditary hearing loss and genetic counseling were also explained briefly. Finally, future directions of the hereditary hearing loss research in Korean population were presented.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.23 no.2
• /
• pp.1-7
• /
• 2023

Inherited metabolic disorders (IMD) are a group of disorders involving various metabolic pathways. Genetic diagnosis of IMD has been challenging because of extremely heterogeneous nature and extensive laboratory and/or phenotype overlap. Conventional genetic diagnosis was a gene-by-gene approach that needs a priori information on the causative genes that might underlie the IMD. Recent implementation of next-generation sequencing (NGS) technologies has changed the process of genetic diagnosis from a gene-by-gene approach to simultaneous analysis of targeted genes possibly associated with the IMD using gene panels or using whole exome/genome sequencing (WES/WGS) covering entire human genes. Clinical NGS tests can be a cost-effective approach for the rapid diagnosis of IMD with genetic heterogeneity and are becoming standard diagnostic procedures.

• Journal of Genetic Medicine
• /
• v.6 no.1
• /
• pp.25-37
• /
• 2009

Hereditary peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies (HMN), and hereditary sensory neuropathies (HSN). HMSN, HMN, and HSN are further subdivided into several subtypes. Here, we review the most recent findings in the molecular diagnosis and therapeutic strategy for hereditary peripheral neuropathies. The products of genes associated with hereditary peripheral neuropathy phenotypes are important for neuronal structure maintenance, axonal transport, nerve signal transduction, and functions related to the cellular integrity. Identifying the molecular basis of hereditary peripheral neuropathy and studying the relevant genes and their functions is important to understand the pathophysiological mechanisms of these neurodegenerative disorders, as well as the processes involved in the normal development and function of the peripheral nervous system. These advances and the better understanding of the pathogenesis of peripheral neuropathies represent a challenge for the diagnoses and managements of hereditary peripheral neuropathy patients in developing future supportive and curative therapies.

• Clinical and Experimental Pediatrics
• /
• v.50 no.10
• /
• pp.1018-1023
• /
• 2007

Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are all due to abnormalities of the vascular structure. This report deals with the case of a 14-year-old girl with typical features of HHT that include recurrent epistaxis, mucocutanous telangiectases, pulmonary and cerebral AVMs and a familial occurrence.

• Management & Information Systems Review
• /
• v.35 no.3
• /
• pp.95-113
• /
• 2016

The study examines the question of what discriminant factors may affect differences between two groups classified by researchers' satisfaction with and continuous use intention of genetic resources(microorganisms). Survey data from researchers who are using microorganisms from a gene bank was used to empirically test. The survey, covering 150 researchers, was conducted from March 26 through April 17 2015. Linear discriminant analysis was used to test the research questions described in the study. Results from the tests show that utilization value and suitability of genetic resources for researchers' R&D activities play key roles in discriminating between the two groups classified by researchers' satisfaction with and continuous use intention of genetic resources, relatively lower and higher groups. The results indicate that useful trait information of and degree in promotion of researches by genetic resources appear to be weak in discriminating between the two groups, and that novelty of genetic resources does not play a crucial role in making a distinction between the two groups. We propose some policy implications based on the results of the study.

• Proceedings of the Korea Technical Association of the Pulp and Paper Industry Conference
• /
• 2001.04a
• /
• pp.89-89
• /
• 2001

종이는 목재섬유와 물의 현탁액을 스크련을 통해 균일하게 분산시킨 판상섬유 제품 으로서 가격이 저렴하고, 열, 전기절연성, 필터기능, 난연성 및 폐기성이 우수하여 다양한 분 야에서 활용되고 있다. 특히 최근에는 종이의 고부가가치화, 차별화를 위하여 내열성, 전기 절연성, 내수성, 기계적 특성, 내약품성, 생체적응성을 지닌 다양한 기능지가 개발되어 식품, 전기, 전자, 건축, 화학, 의료 관련 산업에 있어서 주요 재료로 이용되고 있다. 특히 전기, 전 자산업 발전과 더불어 전기절연성이 우수한 종이의 역할과 수요는 크게 증대되고 있으며 산 업발전의 핵심적인 제품으로서 자리매김을 하고 있다. 하지만 국내의 경우 전기절연지와 관 련된 제품 및 생산기술 부족으로 전량을 수입에 의존하고 있는 실정이며, 그 수입량은 앞으 로 전기 및 전자 산업의 발전으로 인해 더욱 증가할 것으로 예상된다. 이러한 수입의존성을 극복하기 위해서는 전기절연지와 관련된 제품개발 및 생산기술에 관한 연구가 시급히 요청 되고 있다. 이러한 기술의 국산화는 수입 대체 효과 뿐만 아니라 관련 산업의 발전에도 기 여할 수 있을 것으로 예상되며 수출산업으로 성장할 수 있을 것으로 예상된다. 종이의 전기적 성질은 유전상수, 유전손실율과 같은 유전적 특성과 전기저항, 절연 파괴강도의 기계적 특성으로 구분할 수 있다. 종이의 전기적 성질 가운데 유전율은 전기장 에 대한 종이의 물리화학적인 반응으로 일반적으로 종이의 밀도와 종이를 구성하는 성분의 쌍극자 모멘트에 비례하며 온도에 따라서도 변화한다. 일반적으로 온도가 상승하면 열에너 지를 얻게된 쌍극자가 전기장에 배열됨으로써 유전율이 상승하지만 온도가 유리전이점 이상 으로 높아질 경우 열적 교란에 의해서 분극 능력이 감소하게 되어 유전완화 현상이 나타난 다. 전기절연지로 사용될 종이의 절연특성을 이해하기 위해서는 사용환경에 따른 유전적 특 성 및 tan$\delta$에 관한 연구가 펼요하다. 본 연구에서는 종이의 유전특성을 개선하기 위해서 펼름형성능력이 우수한 polyvinyl alcoholCPV A)과 aery lonitrile을 이용하여 시아노에틸화한 P PYA의 표면처리에 따른 종이의 유전적 특성의 변화를 검토하였다. 그 결과 PYA에 도입된 시아노에틸기에 의해 유전율을 증가시킬 수 있음을 확인하였다. 또 본 연구에 적용된 시험 범위에서는 온도상승에 따라 유전율이 상승하였다.

• Journal of the East Asian Society of Dietary Life
• /
• v.11 no.4
• /
• pp.247-258
• /
• 2001

This study focused on the recognition and information need for GMO(Genetically Modified Organism). The data were collected from 350 adults living in Daegu and Busan by means of a self-administered questionnaire. Frequencies and chi-square tests were conducted by SPSS Windows. The results of the survey were as follows: (1) the concerns about GMO were high but recognition was low. (2) many respondents were worried about the safety of GMO. (3) many people desired the labelling of GMO, and (4) the need for information about GMO was high and most respondents wanted to be informed about safety of GMO. This study suggests that the consumer education about GMO should be conducted through mass media and consumer protection organizations.

• Proceedings of the Zoological Society Korea Conference
• /
• 2000.04a
• /
• pp.38-38
• /
• 2000

• Journal of Animal Science and Technology
• /
• v.50 no.6
• /
• pp.733-740
• /
• 2008

The purpose of this study was to assess the genetic variation and establish the relationship amongst Hanwoo, Angus and Holstein breed. The genetic characteristics and variability within Hanwoo(300), Angus(80) and Holstein(50) were estimated on the basis of relationships determined using the 10 kinds of microsatellite, which is located on different chromosomes. Frequencies of microsatellites markers were used to estimate heterozygosities, polymorphic information content(PIC) and genetic distances. The PICs ranged from 0.604 to 0.872(Hanwoo), from 0.562 to 0.812(Angus) and from 0.471 to 0.828(Holstein). Observed heterozygosity and PIC of Hanwoo are the highest among the analyzed breeds. Additionally, Estimates of genetic distance can be utilized to identify genetic relationships between Hanwoo and the other breed. Genetic distances(0.233) between Hanwoo and Angus was lower than distances between Hanwoo and Holstein(2.283). Also, Genetic distances between Angus and Holstein was shown for(2,400). The other side, each individuals were not ramified to different group and were spread evenly in phylogenetic dendrogram about all the populations.