• 대한소아신경학회지
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• 제25권3호
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• pp.204-207
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• 2017

Hyperornithinemia-hyperammonemia-homocitrullinuria 증후군(HHH 증후군)은 경한 학습장애에서 심각한 뇌증에 이르기까지 다양한 신경학적 증상을 보일 수 있는 신경대사질환이다. HHH 증후군은 임상 증상이나 대사 검사 결과가 뚜렷하지 않아 진단이 늦어지는 경우가 흔한데, 이러한 경우 유전자 검사로 확진하는 것이 중요하다. 저자들은 강직성 하반신 마비를 가진 소아와 무증상의 여동생에서 HHH 증후군을 진단하고 유전자 검사를 통해 SLC25A15 유전자의 c.535C>T (p.R179^*)와 c.116C>A (p.T39K) 변이를 확인하였다. p.R179^*는 일본과 중동의 HHH 환자들에서 흔히 발견되는 변이로 한국인에서도 발견됨을 확인하였고, p.T39K는 HHH 증후군을 유발하는 새로운 변이임을 최초로 보고하는 바이다.

• Nutrition Research and Practice
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• 제17권5호
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• pp.984-996
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• 2023

BACKGROUND/OBJECTIVES: Prior studies, mostly conducted in Western countries, have suggested that the low cost of energy-dense foods is associated with an increased risk of obesity. This study aimed to investigate the association between food costs and obesity risk among Koreans who may have different food cost and dietary patterns than those of Western populations. SUBJECTS/METHODS: We used baseline data from a cohort of 45,193 men and 83,172 women aged 40-79 years (in 2006-2013). Dietary intake information was collected using a validated food frequency questionnaire. Prudent and Western dietary patterns extracted via principal component analysis. Food cost was calculated based on Korean government data and market prices. Logistic regression analyses were performed to investigate the association of daily total, prudent, and Western food cost per calorie with obesity. RESULTS: Men in the highest total food cost quintile had 15% higher odds of obesity, after adjusting for demographic characteristics and lifestyle factors (adjusted odds ratio, 1.15; 95% confidence interval, 1.08-1.22; P-trend < 0.001); however, this association was not clear in women (P-trend = 0.765). While both men and women showed positive associations between prudent food cost and obesity (P-trends < 0.001), the association between Western food cost and obesity was only significant in men (P-trend < 0.001). CONCLUSIONS: In countries in which consumption of Western foods is associated with higher food costs, higher food costs are associated with an increased risk of obesity; however, this association differs between men and women.

• Journal of Genetic Medicine
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• 제20권2호
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• pp.60-69
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• 2023

Purpose: Despite enzyme replacement therapy (ERT) and/or allogeneic hematopoietic stem cell transplantation, individuals with mucopolysaccharidosis (MPS) I or II often experience significant growth deficiencies. This study aimed to assess the safety and efficacy of recombinant human growth hormone (hGH) treatment in children diagnosed with MPS I or II. Materials and Methods: A total of nine pediatric patients-four with MPS I and five with MPS II-underwent treatment with ERT and hGH at Samsung Medical Center. Results: The mean hGH dose administered was 0.26±0.03 mg/kg/week. In the MPS I group, three patients showed an increase in height Z-score from -4.09±0.83 to -3.68±0.43 after 1 year of hGH treatment, and to -3.10±0.72 by the end of the hGH regimen. In the MPS II group, while the height Z-score of four patients decreased according to standard growth charts, it improved from 1.61±1.79 to 2.71±1.68 based on the disease-specific growth chart through hGH treatment. Two patients discontinued hGH treatment due to lack of efficacy after 22 and 6 months each of treatment, respectively. No new-onset neurological symptoms or necessity for prosthetic or orthopedic surgery were reported during hGH treatment. Conclusion: This study provides insights into the impact of hGH on MPS patients, demonstrating its potential to reverse growth deceleration in some cases. Further research is needed to explore the long-term effects of hGH on changes in body composition, muscle strength, and bone health in this population.

• 한국응용곤충학회지
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• 제39권3호
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• pp.181-191
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• 2000

국내 늦반딧불이(Pyrocoelia rufa)이 미토콘드리아 DNA중 COI 유전자 일부(403 bp)의 염기서열을 결정, 집단내 유전적 다양도, 지역적 변이, 계통유전적 관련에 대한 분석을 실시하였다. 남해, 부산, 무주, 용인 등 우리나라 4개 지역으로부터 채집된 총 26개체로부터 7개의 mtDNA haplotype을 얻었으며 이들의 변이는 0.2~1.2%이었다. 도심인 부산에서 채집한 늦반딧불이는 다른 산림 및 농업의 채집지역과 달리 하나의 haplotype으로 고정되어 있어 도시화에 따른 집단의 병목현상과 서식처 파편화가 심각했음을 보여주었다. 그러나 우리나라 최대의 반딧불이 서식처이자 보호지역으로 지정된 무주로부터 4개의 haplotype을 얻었으며 이들의 최대염기 치환율은 1.0%로 가장 높은 집단내 유전적 다양도를 나타내었다. 근해의 섬인 남해의 늦반딧불이는 상대적으로 낮은 haplotype 다양도(H=0.25)와 계통유전적으로 이질적인 haplotype(PR7)의 존재로 요약되었는데 이는 비교적 가까운 과거의 한반도 생물지리 역사 및 유전자 이동에 의해 나타난 현상으로 설명하였다. 계층적 유전분석 결과 무주-용인과 부산-남해 그룹의 형성은 역사적으로 두 그룹사이에 유전자 이동에 반한 장벽의 존재 가능성을 제시한다고 설명하였다.

• 생명과학회지
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• 제30권3호
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• pp.291-297
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• 2020

본 연구는 차세대 염기서열 분석법(NGS)을 이용하여 방어의 microsatellite 마커를 개발하고, 개발된 마커를 이용하여 방어 집단의 유전적 특성을 분석하기 위해 수행되었다. 차세대 염기서열 분석 장비인 Illumina Hiseq2500를 이용하여 총 28,873,374개의 read들을 얻어 assembly를 수행한 결과, 전체의 약 1.6%에 해당하는 466,359개의 read들이 assembly 되었으며, 이 read들의 총 길이는 7,247,216,874 bp로 확인되었다. 크기가 518 bp 이상이 되는 contig는 30.729개로 나타났으며, 이 중 microsatellite 영역을 포함하는 contig 132개(0.43%)를 1차로 선별하고, PCR 증폭 여부 및 유전자형 분석을 통해 microsatellite 후보 60개를 2차로 선별하였다. 그 중 방어집단의 마커로서 유용한 15개의 microsatellite 마커를 선택하였다. 방어집단을 대상으로 개발된 15개의 microsatellite 마커로 분석한 결과, 관찰된 유효 대립유전자수(N_A)는 평균 18.5(11~30)로 나타났다. 평균 관측치 이형접합도(H_O)와 평균기대치 이형접합도(H_E)는 각각 0.812(0.431~0.972)와 0.896(0.782~0.949)으로 나타났다. 다형성이 관찰된 모든 microsatellite 마커 간의 연관불평형은 나타나지 않았으며, 해산어의 평균 H_E 값인 0.79 이상의 수치를 나타내었다. 따라서 본 연구에서 개발된 15개의 microsatellite 마커는 방어 집단의 유전적 다양성 분석에 유용할 것으로 사료된다.

• Asian-Australasian Journal of Animal Sciences
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• 제30권8호
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• pp.1086-1092
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• 2017

Objective: O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT) catalyzes the addition of O-GlcNAc and GlcNAcylation has extensive crosstalk with phosphorylation to regulate signaling and transcription. Pig OGT is located near the region of chromosome X that affects follicle stimulating hormone level and testes size. The objective of this study was to find the variations of OGT between European and Chinese pigs. Methods: Pigs were tested initially for polymorphism in OGT among European and Chinese pigs by polymerase chain reaction and sequencing at the U.S. Meat Animal Research Center (USMARC). The polymorphism was also determined in an independent population of pigs including European and Chinese Meishan (ME) breeds at the National Institute of Animal Science (NIAS, RDA, Korea). Results: The intron 20 of OGT from European and Chinese pigs was 514 and 233 bp, respectively, in the pigs tested initially. They included 1 White composite (WC) boar and 7 sows ($2Minzu{\times}WC$, $2Duroc\;[DU]{\times}WC$, $2ME{\times}WC$, $1Fengzing{\times}WC$) at USMARC. The 281-bp difference was due to an inserted 276-bp element and GACTT in European pigs. When additional WC and ME boars, the grandparents that were used to generate the $1/2ME{\times}1/2WC$ parents, and the 84 boars of 16 litters from mating of $1/2ME{\times}1/2WC$ parents were analyzed, the breeds of origin of X chromosome quantitative trait locus (QTL) were confirmed. The polymorphism was determined in an independent population of pigs including DU, Landrace, Yorkshire, and ME breeds at NIAS. OGT was placed at position 67 cM on the chromosome X of the USMARC swine linkage map. Conclusion: There was complete concordance with the insertion in European pigs at USMARC and NIAS. This polymorphism could be a useful marker to identify the breed of origin of X chromosome QTL in pigs produced by crossbreeding Chinese and European pigs.

• 한국응용곤충학회지
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• 제22권2호
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• pp.98-105
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• 1983

The rapid increase in cases of insect resistance to insecticides indicates that the contribution of present chemical control practices inevitably leads to exhaustion of available insecticide resources against key insect species. Now the problem of insecticide resistance exists worldwide among insects and mites affecting field crops and animals including human beings, ranging from minimal or absent in some developing countries, where use of insecticides has been low, to extremely severe in many developed countries. Since the occurrence of insect resistance to insecticides was firstly recognized in 1908, the increase in recent decades has been almost linear and now the number of species of insects and acarines in which resistant strains have evolved have been increased to a total of 432. Of these, $261(60\%)$ are agricultural importance and $171(40\%)$ of medical/veterinary importance. The phenomenon of insecticide resistance is asserting itself as the greatest challenge to effective chemical control of many important insect pests. Resistance of insects to insecticides has a history of nearly 80 years, but its greatest increase and its strongest impact have occurred during the last 40 years following the discovery and extensive use of synthetic organic insecticides and acaricides. The impact of resistance should be considered not only in terms of greater cost of pest control due to increased dosages and number of applications but also in terms of the ecological disruption of pest-beneficial species density relationships, the loss of investment in the development of the insecticides concerned, and socio-economic disruption in agricultural communities. Despite its grave economic consequences, the phenomenon of insecticide resistance has received surprisingly little attention in Korea. Since the study of insecticides started firstly in 1963, many entomologists have been concerned with this study. According to their results, some of the rice pests and some of the mites on orchard trees, for example, have developed worrisome level of resistance in several areas of this peninsula. With many arthropods, considerable advances in the developed countries have been made in the study of the biochemical and physiological mechanisms of resistance. Progress involves the biochemical characteristics of specific defense mechanisms, their genetics, interactions, and their quantitative and qualitative contribution to resistance. But their studies arc still inadequately known and relatively little have been contributed in terms of unique schemes of population management in achieving satisfactory pest control. It is apparent that there is no easy solution to resistance as a general phenomenon. For future challenging to effective control of insect pests which are resistant to the insecticides concerned, new insecticide groups with distinctly novel mode of action are urgently needed. It is clear, however, that a great understanding of the factors which govern the intensity of selection of field population for resistance could lead to far more permanently successive use of chemicals within the framework of integrated pest management than heretofore practiced.

• 생명과학회지
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• 제20권12호
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• pp.1758-1763
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• 2010

골다공증은 복합적 전신 골격 질환으로, 공중 보건 분야의 전세계적인 주요한 관심 질환의 한 가지이다. 골다공증은 유전적 영향을 받는 질환으로, 낮은 골밀도와 적은 외력 의한 골다공성 골절 등의 특징을 보이며, 강한 유전성을 나타내는 질환이다. 그러나, 낮은 골밀도과 연관된 특정한 유전자의 다형성은 아직까지 많이 알려져 있지 않다. 본 연구에서는 SQSTM1 유전자의 유전적 다형성과 낮은 골밀도 사이의 상관성을 확인하기 위해, 한국인 유전체 연구(Korean Association Resource, KARE)에서 골밀도를 측정한 7,225명(남성: 3,622명, 여성: 3,603명)을 대상으로 SQSTM1 유전자 다형성과 골밀도 간의 선형 회기 분석을 하였다. BD-RT (원위 요골의 T 점수로 예측한 골밀도)에서 SQSTM1 유전자에서 3개의 SNP (rs513235, rs3734007, rs11249661)가 유의한 상관성이 있는 것으로 나타났으며, BD-TT (중위 경골의 T 점수로 예측한 골밀도)에서는 4개의 SNP (rs513235, rs3734007, rs2241349, rs11249661)가 유의한 상관성이 있는 것으로 나타났다. 특히 3개의 SNP (rs513235, rs3734007, rs11249661)는 BD-RT와 BD-TT 두 종류의 골밀도에서 공통적으로 유의한 상관성을 보였다. 이러한 결과로 미루어 골밀도와 SQSTM1 유전자의 다형성 간에 통계적으로 유의한 상관성을 가지며, SQSTM1 유전자는 골다공증의 발병과정에 관련이 있을 것으로 사료된다.

• Journal of Genetic Medicine
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• 제4권2호
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• pp.128-132
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• 2007

목 적:자궁내막증은 유전적 연관성이 명확히 규명되지 않은 에스트로겐 의존성 질환이다. 그 연관성에 대하여 명확히 밝혀진 것은 없으나 일부 유전적 연구 결과들을 살펴보면 자궁내막증이 프로게스테론 수용체 유전자의 특정 다형성 부위와 연관되어 있음을 알 수 있다. 본 연구는 프로게스테론 수용체 유전자의 다형성(PROGINS)을 분석하여 자궁내막증 환자와 대조군에 차이가 있는지를 알고자 고안되었다. 방 법:수술 및 병리조직 소견에서 자궁내막증을 확진받은 100명의 환자와 건강검진을 시행 받은 일반 인구군 110명을 대상으로 하였다. 대상 환자들의 말초 혈액에서 DNA를 추출한 후 프로게스테론 수용체의 유전자 다형성 검사를 PCR-SSP (Sequence specific primer)방법으로 시행하였고 자궁내막증 환자군과 건강대조군에 있어서 특정 유전자 다형성의 빈도에 차이가 있는지 $x^2$ 검정을 통하여 통계 분석하였다. 결 과:자궁내막증군과 대조군에서 각각 1명에서만 PROGINS 다형성 양상이 T1/T2 이형접합자로 확인이 되었고 나머지 개체에서는 모두 T1/T1 동형접합자임이 확인되었다. 결 론:자궁내막증과 프로게스테론 수용체의 유전자 다형성(PROGINS)간의 연관성은 밝혀지지 않았으나 대규모의 연구 및 다른 유전자의 연구가 자궁내막증의 병인을 규명하는데 유용할 것으로 생각된다.

• Journal of Preventive Medicine and Public Health
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• 제44권3호
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• pp.125-130
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• 2011

Objectives: The microRNA (miRNA) miR-196a2 may play an important role in lung cancer development and survival by altering binding activity of target mRNA. In this study, we evaluated their associations with the susceptibility of non-small cell lung cancers (NSCLC) by case-control study in a Korean population. Methods: We performed genotyping analyses for miR-196a2 rs11614913 T/C at miRNA regions in a case-control study using blood samples of 406 NSCLC patient and 428 cancer-free control groups. Results: The total C allele frequencies for miR-196a2 were 48.8% for the patients and 45.6% for the controls; and the genotype frequencies of TT, TC, and CC were 23.7%, 55.2%, and 21.1% for the patients and 31.1%, 46.35%, and 22.4% for the controls (p<0.05). Participants who possesses TC/CC genotypes showed high risk for NSCLC compared to those possessed TT genotypes (OR, 1.42; 95% CI, 1.03 to 1.96). The association was persisted in 60 and older age group, male, smokers, those without family history for cancer. However, no significant association of CC genotypes in recessive genetic model was observed. Conclusions: In conclusion, this case-control study provides evidence that miR-196a2 rs11614913 C/T polymorphisms are associated with a significantly increased risk of NSCLC in a dominant model, indicating that common genetic polymorphisms in miR-196a2 rs11614913 are associated with NSCLC. The association of miR196a2 rs11614913 polymorphisms and NSCLC risk require confirmation through additional larger studies.