• 한국환경성돌연변이발암원학회지
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• 제22권1호
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• pp.47-53
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• 2002

Essential hypertension is complex disorder influenced by multiple genetic and environmental factors. Alterations of lipid metabolism in plasma have been reported to be related to an increased risk of essential hypertension. The aim of this study was to investigate the relationship between two SNPs of the human LDL receptor and CETP gene and hypertension in Korean population. There were no significant differences in allele and genotype frequencies of two SNPs in normotensives and hypertensives. With respect to Hinc II RFLP in the LDL receptor gene, pooled odds ratio value indicated the significant heterogeneity among populations studied by meta-analysis (Breslow-Day test df = 2, P<0.05). In the case of Bam HI RFLP in the CETP gene,. our study is the first report of an association between the SNP of the CETP gene and hypertension, although our result failed to demonstrate the significant association between the Bam HI RFLP of the CETP gene and hypertension in Korean population. Further work, using larger sample sizes and various ethnic groups, is required to establish the precise role of these two candidate gene polymorphisms on hypertension.

• 생명과학회지
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• 제16권1호
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• pp.88-94
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• 2006

본 연구에서 넙치와 조기의 원산지를 판별하기 위한 도구로 RAPD PCR 방법의 가능성을 확인하였다. 넙치는 한국의 주문진 자연산, 통영 양식산, 거제 양식산 그리고 북한 자연산을 실험에 사용하였다. 조기는 한국산과 중국산을 사용하였다. 넙치의 RAPD 패턴에서는 뚜렷하고 일관성이 있는 진단용 띠들을 쉽게 찾을 수 있었다. 조기의 경우에는 유전적인 이질성으로 인하여 각 개체의 RAPD 패턴에서는 일관성이 있는 진단용 띠를 찾기 어려웠지만 각 원산지별로 얻은 RAPD 패턴에서는 가능성이 있는 진단용 띠들을 찾을 수 있었다.

• 생명과학회지
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• 제16권4호
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• pp.699-703
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• 2006

옥수수(Zea mays)는 단성화 식물로서 암꽃과 수꽃이 한 식물체내에 분리되어서 존재하며 수정시 이질성을 높이는 방향으로 진화되었다. 암꽃과 수꽃 각각은 단성화 상태로 분화하기 전에 한 개의 암술과 세 개의 수술 원시세포가 동일하게 형성된다. 옥수수가수꽃으로 분화할 때는 암술 원시세포에서 세포사멸 현상이 일어나는데 이것은 TASSELSEED 유전자들에 의해 매개된다. 이와 대조적으로 암꽃의 암술에서는 TASSELSEED 유전자들에 의한 세포사멸이 억제되는데 여기에는 SILKLESS1 유전자가 관여한다. 한편, 암꽃의 수술에서는 세포주기 멈춤 현상이 오랜 시간 지속되다가 결국에는 수술이 죽게 된다. 이때 세포주기를 조절하는 유전자인 CYCLIN B 와 WEE1 유전자가 이 과정에 참여한다. 이와 더불어, 지베렐린 생합성의 시간적 공간적 조절이 수술의 세포주기 멈춤의 원인이 된다. 본 총설에서는 옥수수의 성 결정 과정 중에 일어나는 세포사멸, 세포 방어, 세포주기 멈춤에 대하여 분자세포 발생 생물학 및 유전학적인 견지에서 고찰하였다.

• Genes and Genomics
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• 제40권12호
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• pp.1279-1285
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• 2018

Interdigitating dendritic cell sarcoma (IDCS) is an aggressive neoplasm and is an extremely rare disease, with a challenging diagnosis. Etiology of IDCS is also unknown and most studies with only case reports. In our case, immunohistochemistry showed that the tumor cells were positive for S100, CD45, and CD68, but negative for CD1a and CD21. This study aimed to investigate the causative factors of IDCS by sequencing the protein-coding regions of IDCS. We performed whole-exome sequencing with genomic DNA from blood and sarcoma tissue of the IDCS patient using the Illumina Hiseq 2500 platform. After that, we conducted Sanger sequencing for validation of sarcoma-specific variants and gene ontology analysis using DAVID bioinformatics resources. Through comparing sequencing data of sarcoma with normal blood, we obtained 15 nonsynonymous single nucleotide polymorphisms (SNPs) as sarcoma-specific variants. Although the 15 SNPs were not validated by Sanger sequencing due to tumor heterogeneity and low sensitivity of Sanger sequencing, we examined the function of the genes in which each SNP is located. Based on previous studies and gene ontology database, we found that POLQ encoding DNA polymerase theta enzyme and FNIP1 encoding tumor suppressor folliculin-interacting protein might have contributed to the IDCS. Our study provides potential causative genetic factors of IDCS and plays a role in advancing the understanding of IDCS pathogenesis.

• 한국환경농학회지
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• 제38권3호
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• pp.185-196
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• 2019

BACKGROUND: This study investigated the effects of rice genetically modified to be resistant against rice blast and rice bacterial blight on the soil microbial community. A comparative analysis of the effects of rice genetically modified rice choline kinase (OsCK1) gene for disease resistance (GM rice) and the Nakdong parental cultivar (non-GM rice) on the soil microbial community at each stage was conducted using rhizosphere soil of the OsCK1 and Nakdong rice. METHODS AND RESULTS: The soil chemistry at each growth stage and the bacterial and fungal population densities were analyzed. Soil DNA was extracted from the samples, and the microbial community structures of the two soils were analyzed by pyrosequencing. No significant differences were observed in the soil chemistry and microbial population density between the two soils. The taxonomic analysis showed that Chloroflexi, Proteobacteria, Firmicutes, Actinobacteria, and Acidobacteria were present in all soils as the major phyla. Although the source tracking analysis per phylogenetic rank revealed that there were differences in the bacteria between the GM and non-GM soil as well as among the cultivation stages, the GM and non-GM soil were grouped according to the growth stages in the UPGMA dendrogram analysis. CONCLUSION: The difference in bacterial distributions between Nakdong and OsCK1 rice soils at each phylogenetic level detected in microbial community analysis by pyrosequencing may be due to the genetic modification done on GM rice or due to heterogeneity of the soil environment. In order to clarify this, it is necessary to analyze changes in root exudates along with the expression of transgene. A more detailed study involving additional multilateral soil analyses is required.

• Animal Bioscience
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• 제37권5호
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• pp.817-825
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• 2024

Objective: The aim of this study was to identify suitable polynomial regression for modeling the average growth trajectory and to estimate the relative development of the rib eye area, scrotal circumference, and morphometric measurements of Guzerat young bulls. Methods: A total of 45 recently weaned males, aged 325.8±28.0 days and weighing 219.9±38.05 kg, were evaluated. The animals were kept on Brachiaria brizantha pastures, received multiple supplementations, and were managed under uniform conditions for 294 days, with evaluations conducted every 56 days. The average growth trajectory was adjusted using ordinary polynomials, Legendre polynomials, and quadratic B-splines. The coefficient of determination, mean absolute deviation, mean square error, the value of the restricted likelihood function, Akaike information criteria, and consistent Akaike information criteria were applied to assess the quality of the fits. For the study of allometric growth, the power model was applied. Results: Ordinary polynomial and Legendre polynomial models of the fifth order provided the best fits. B-splines yielded the best fits in comparing models with the same number of parameters. Based on the restricted likelihood function, Akaike's information criterion, and consistent Akaike's information criterion, the B-splines model with six intervals described the growth trajectory of evaluated animals more smoothly and consistently. In the study of allometric growth, the evaluated traits exhibited negative heterogeneity (b<1) relative to the animals' weight (p<0.01), indicating the precocity of Guzerat cattle for weight gain on pasture. Conclusion: Complementary studies of growth trajectory and allometry can help identify when an animal's weight changes and thus assist in decision-making regarding management practices, nutritional requirements, and genetic selection strategies to optimize growth and animal performance.

• 대한유전성대사질환학회지
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• 제20권1호
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• pp.29-35
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• 2020

쥬버트 증후군(JS, Joubert syndrome)은 대부분 상염색체 열성으로 유전되는 유전성 대사질환으로 임상증상은 신생아 시기부터 발현된다. 저자들은 신생아기부터 특징적인 임상 증상이 순차적으로 발현되어 임상적으로 JS를 의심하였으나 특징적인 뇌 MRI 소견인 molar tooth sign (MTS)이 늦게 나타난 후 전장엑솜분석(WES, whole exome sequencing)으로 확진 된, 말기 신부전을 동반한 JS 1례를 경험하였기에 보고하고자 한다. 14세 남자 환자는 출생 직후 반복적인 무호흡과 과호흡으로 치료받은 병력이 있으며, 생후 8개월때부터 전반적 발달 지연과 관련되어 처음 병원을 방문하여 기본적인 발달 지연에 관한 검사를 시행하였으나 특이 소견 없었고, 이후 15개월 때 근육생검을 포함한 여러 검사를 통해 사립체(mitochondrial) 질환으로 진단 되었었다. 이후 물리 치료만 하며 관찰 하던 중 안구진탕과 망막질환이 확인되었다. 생후 7세 8개월에는 처음 발작이 있었으며, 말기 신부전이 있어 8세부터 혈액투석을 시작한 후, 혈액 투석 직후 수차례 발작이 있었으나 전해질 불균형으로 인한 발작으로 진단하여 항뇌전증 약물 치료는 하지 않았다. 9세 4개월 때 고혈압으로 인한 뇌출혈로 치료 받았으며, 이때 시행한 뇌 CT상 MTS가 처음 의심되었다. 13세 10개월에 시행한 뇌 MRI 검사상 MTS가 명확히 확인되었고, 전장엑솜 분석으로 JS의 CEP290 mutation (c.6012-12T>A)이 확인되었다. 환자는 신생아기부터 발현된 특징적인 임상 소견과 말기 신부전 상태, 뇌 CT 또는 MRI소견, 그리고 전장엑솜분석 검사로 JS로 확진하였다. JS는 임상 양상이 다양할 뿐만 아니라 진단에 중요한 MTS 소견이 초기에 보이지 않더라도, 임상적으로 의심된다면 확진을 위해서 전장엑솜분석을 시행하는 것이 필요하다.

• Asian Pacific Journal of Cancer Prevention
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• 제16권15호
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• pp.6705-6709
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• 2015

Background: Venous thromboembolisms (VTEs) constitute a group of diseases including deep vein thrombosis (DVT) and pulmonary embolism (PE). They regarded as the second leading cause of death in cancer patients and several studies have confirmed that VTEs have a negative impact on survival and recurrent rate in both ovarian and endometrial cancer cases. The incidence of VTEs differs worldwide and depends on several risk factors including race, underlying disease, lifestyle, body weight, BMI and genetic risk factors. There is heterogeneity of DVT rates between Asian and Western countries. This study was conducted in order to evaluate the character and incidence of VTEs in gynecologic oncology patients in King Chulalongkorn Memorial Hospital over a 10 year period. Materials and Methods: A retrospective chart review was performed with VTEs defined as objective diagnosis of acute DVT or PE with typical symptoms and signs. Diagnoses were approved byan internist and/or confirmed with imaging studies. Data from both outpatient and inpatient sessions of the affected cases from January 2004 to December 2013 were extracted. General characteristics of the patients were collected with details of the diseases, types of cancer, stage, date of diagnosis of cancer, operative data, treatment outcome, progression free survival and overall survival. Results: Thirty cases of VTEs were identified in a total 2,316 gynecologic oncology cases. The incidence of symptomatic VTEs in total gynecologic oncology patients in our institution is 1.295%. The incidence of VTEs in ovarian cancer patients in our institution was 5.9%. Duration for VTE detection ranged from 13 months before diagnosis of cancer to 33 months after diagnosis of cancer. Most of the VTE cases were detected in ovarian cancer patients (60%). The most common cell type was adenocarcinoma (moderately to poorly differentiated) which accounted for 26.7% of the cases. The second most common cell type was clear cell carcinoma with 23.3% of the cases. Thirty percent of VTE cases developed before cancer was diagnosed, 20% were diagnosed at the same time as cancer detection and fifty percent developed after cancer was diagnosed. Median disease free survival of the gynecologic oncology patients with VTE was 7.5 months. Median overall survival (OS) was 12 months. Median progession free survivals of DVT and PE groups were 11.5 and 5.5 months, respectively. OS of DVT and PE was 12.0 and 11.5 months respectively. Conclusions: The incidence of VTE in Asian countries is believed to be lower than in European or Western countries. From our retrospective review, the incidence of VTEs in all types of gynecologic oncology was 1.295%, much lower than reported in the West. The reason for the lower incidence may genetic differences. Another factor is that VTE in this review was symptomatic, which is less than asymptomatic VTE. More than half of VTEs in this study developed in ovarian cancer patients. The results are compatible with earlier reports that among gynecologic malignancies, the incidence of VTE is highest in ovarian cancer.

• Journal of Genetic Medicine
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• 제4권1호
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• pp.72-79
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• 2007

목 적 : 제3형 당원병은 상염색체 열성으로 유전되는 드문 글리코겐 대사 질환이다. 글리코겐 debranching 효소는 두 가지 효소의 기능을 가지는데, amylo-1,6-glucosidase와 4-alpha-glucanotransferase가 그것이며, 제3형 당원병에서는 글리코겐 debranching 효소의 결핍으로 글리코겐의 불완전한 분해가 초래되며, 다양한 임상 및 생화학적 양상을 보이는 것으로 알려져 있다. 본 연구에서는 3명의 한국인 환자의 임상 및 생화학적 양상을 분석하고, AGL 유전자의 돌연변이 형태를 밝히고자 하였다. 방 법 : 서로 혈연 관계가 없는 3명의 한국인 제3형 당원병 환자를 대상으로, 생화학적, 조직학적, 방사선학적 특징을 포함한 임상 양상을 의무 기록을 통하여 조사하였다. 환자의 말초혈액에서 백혈구를 분리하여 추출한 genomic DNA를 사용하여 직접적 염기 서열 분석법으로 AGL 유전자의 35개 exon 및 exon과 intron의 경계 부분을 조사하여 돌연변이를 조사하였다. 결 과 : 간비대, 경련, 저신장, 고지혈증, 간효소 수치의 증가, creatine kinase 수치의 증가, 경도의 심근증 등 다양한 임상 양상이 관찰되었고, 한 명의 환자는 진행성 간섬유화로 인하여 간이식 수술을 시행 받았다. 생옥수수 전분가루의 복용은 모든 환자에서 정상 혈당을 유지시키고, 생화학적 검사 소견을 개선시키며 정상적인 성장 속도를 보이게 하였다. AGL 유전자 분석 결과 6개의 대립유전자 중 5개에서 돌연변이를 확인할 수 있었으며, 이중에 p.R428K를 제외한 4개의 돌연변이는 이제까지 보고된 적이 없는 새로운 돌연변이(c.1306delA, c.1510-1511insT, c.3416 T>C, c.1735+1 G>T)였다. 결 론 : 제3형 당원병은 임상 증상 및 중등도가 다양한 질환으로, 제1형 당원병의 증상과 유사하여 초기에 감별이 쉽지 않으며, 한국인 환자에서의 AGL 유전자의 돌연변이 양상도 매우 이질적이다.

• Asian Pacific Journal of Cancer Prevention
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• 제16권16호
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• pp.6813-6823
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• 2015

Glioblastoma, also known as glioblastoma multiforme (GBM), is the most aggressive of human brain tumors and has a stunning progression with a mean survival of one year from the date of diagnosis. High cell proliferation, angiogenesis and/or necrosis are histopathological features of this cancer, which has no efficient curative therapy. This aggressiveness is associated with particular heterogeneity of the tumor featuring multiple genetic and epigenetic alterations, but also with implications of aberrant signaling driven by growth factors. The transforming growth factor ${\beta}$ ($TGF{\beta}$) superfamily is a large group of structurally related proteins including $TGF{\beta}$ subfamily members Nodal, Activin, Lefty, bone morphogenetic proteins (BMPs) and growth and differentiation factor (GDF). It is involved in important biological functions including morphogenesis, embryonic development, adult stem cell differentiation, immune regulation, wound healing and inflammation. This superfamily is also considered to impact on cancer biology including that of GBM, with various effects depending on the member. The $TGF{\beta}$ subfamily, in particular, is overexpressed in some GBM types which exhibit aggressive phenotypes. This subfamily impairs anti-cancer immune responses in several ways, including immune cells inhibition and major histocompatibility (MHC) class I and II abolishment. It promotes GBM angiogenesis by inducing angiogenic factors such as vascular endothelial growth factor (VEGF), plasminogen activator inhibitor (PAI-I) and insulinlike growth factor-binding protein 7 (IGFBP7), contributes to GBM progression by inducing metalloproteinases (MMPs), "pro-neoplastic" integrins (${\alpha}v{\beta}3$, ${\alpha}5{\beta}1$) and GBM initiating cells (GICs) as well as inducing a GBM mesenchymal phenotype. Equally, Nodal promotes GICs, induces cancer metabolic switch and supports GBM cell proliferation, but is negatively regulated by Lefty. Activin promotes GBM cell proliferation while GDF yields immune-escape function. On the other hand, BMPs target GICS and induce differentiation and sensitivity to chemotherapy. This multifaceted involvement of this superfamily in GBM necessitates different strategies in anti-cancer therapy. While suppressing the $TGF{\beta}$ subfamily yields advantageous results, enhancing BMPs production is also beneficial.