• Asian Pacific Journal of Cancer Prevention
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• 제16권5호
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• pp.1977-1980
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• 2015

Objective: The Von Hippel-Lindau syndrome (VHLD), an inherited neoplastic syndrome predisposing to central nervous system hemangioblastoma (CNS), pheochromocytoma (PCC), renal cell carcinoma(RCC), retinal hemangioma (RA) and renal cysts, is caused by mutations or deletions of the VHL tumor-suppressor gene. To assess VHL genotype-phenotype correlations with function of pVHL a gene mutation analysis of members in a Chinese family with non-syndromic PCCs and individuals with apparently sporadic pheochromocytoma (ASP) was performed. Materials and Methods: DNA samples of 20 members from the Chinese family with non-syndromic PCCs and 41 patients with ASP were analyzed by polymerase chain reaction and direct sequencing, confirmed by Taqman probe. Results: Three novel mutations (H125P, 623(^TTTGTtG) and R120T) were identified in the Chinese family and in 3 among 41 ASP patients. The mutations were all located in exon 2 of VHL gene encoding ${\beta}$-domain of pVHL. The tumor type in H125P carriers and R120T carriers was VHL type 2C. And 623(^TTTGTtG) carriers presented VHL type 2B or type 2C. Conclusions: VHL gene abnormalities were identified in the Chinese family with non-syndromic PCCs and patients with APS, resulting in dysfunction of pVHL. H125P and R120T could be associated with VHL type 2C, while 623(^TTTGTtG) might be linked with VHL type 2B or type 2C. Not only is the genetic analysis helpful for early diagnosis and treatment of patients with VHLD, it is also benefitial for research intoVHLD pathogenesis.

• Asian Pacific Journal of Cancer Prevention
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• 제13권10호
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• pp.5101-5104
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• 2012

Background: Genetic mutation is a significant factor in colon CA pathogenesis. Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps affecting a number of cases in the family. This report focuses on a family with attenuated familial adenomatous polyposis (AFAP) with exon 4 mutation, c.481C>T p.Q161X of the APC gene. Methods: We analyzed 20 members of a family with AFAP. Clinical and endoscopic data were collected for phenotype determination. Genetic analysis was also performed by direct sequencing of the APC gene. Result: Five patients with a phenotype of AFAP were found. Endoscopic polyposis was demonstrated among the second generation with genotype mutation of the disease (age > 50 years) consistent with delayed phenotypic adenomatous polyposis in AFAP. APC gene mutation was identified in exon 4 of the APC gene, with mutation points of c.481C>T p.Q161X. Laparoscopic subtotal colectomy was performed to prevent carcinogenesis. Conclusion: A family with attenuated familial adenomatous polyposis of APC related to exon 4 mutation, c.481C>T p.Q161X, was reported and the phenotypic finding was confirmed by endoscopic examination. Genetic mutation analysis might be advantageous in AFAP for long term colon cancer prevention and management due to subtle or asymptomatic phenotype presentation in early adulthood.

• 대한예방의학회:학술대회논문집
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• 대한예방의학회 1999년도 제51차 추계 학술대회 연제집
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• pp.136-137
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• 1999

• Genomics & Informatics
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• 제19권1호
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• pp.5.1-5.11
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• 2021

Head and neck squamous cell carcinoma (HNSCC) is the most frequent type of head and neck cancer that usually arises from the mucosal surfaces of several organs including nasal cavity, paranasal sinuses, oral cavity, tongue, pharynx, and larynx. The Wnt signaling pathway is a crucial mechanism for cellular maintenance and development. It regulates cell cycle progression, apoptosis, proliferation, migration, and differentiation. Dysregulation of this pathway correlates with oncogenesis in various tissues including breast, colon, pancreatic as well as head and neck cancers. The present study aims to assess the gene alterations in the Wnt family of genes so as to derive an association with HNSCC. Computational approaches have been utilized for the identification of gene alterations in the Wnt family of genes. Several databases such as cBioportal, STRING, and UALCAN were used for the purpose. The frequency of alteration was high in case of Wnt family member 11 (5%). Gene amplification, deep deletions, missense and truncating mutations were observed in HNSCC patients. There was a marked difference in the gene expression profile of WNT11 between grades as well as normal samples. The survival probability measured using the Kaplan-Meier curve also presented with a significant difference among male and female subjects experiencing a low/medium level expression. The female patients showed less survival probability when compared to the male subjects. This provides the prognostic significance of the WNT11 gene in HNSCC. Taken together, the present study provides clues on the possible association of WNT11 gene alterations with HNSCC, which has to be further validated using experimental approaches.

• Neonatal Medicine
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• 제17권2호
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• pp.250-253
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• 2010

Citrullinemia는 요소 회로 이상으로 argininosuccinate synthetase의 결핍으로 기인한다. 저자들은 citrullinemia type I 환자와 그의 가족에서 새롭게 발견된 돌연변이를 경험하여 이를 보고하고자 한다. 환아는 광범위 신생아 선천성 대사이상 선별검사에서 citrulline이 고도의 증가 소견과 혈청 암모니아는 $982{\mu}mol/L$까지 증가 소견을 보였다. 혈청 아미노산 분석결과 citrulline 1,581 nmol/mL로 현저한 증가 소견을 보였으며 또한 소변 유기산 분석 검사결과 orotic acid가 3,566 mmol/mol Cr로 매우 증가된 소견을 보였다. Citrullinemia 확진을 위하여 환아와 가족에 대하여 ASS1 gene 검사를 시행하였다. 환아는 c.689G>C (p.G230A)와 c.892G>A (p.E298k)의 변이가 발견되어 ASS1 gene의 돌연변이에 의한 citrullinemia type I 으로 진단되었으며, 두 가지 돌연변이는 아직 국내에 보고된 적 없는 새로운 것으로 확인되었다. 국내에서 새롭게 발견된 citrullinemia type I 유전자를 보고하며 citrullinemia를 보인 경우 확진 및 유전상담을 위하여 가족 유전자 검사를 시행하는 것이 필요하다고 생각한다.

• International Journal of Industrial Entomology and Biomaterials
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• 제4권2호
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• pp.155-162
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• 2002

Cytochrome P45O (CYP) gene has been known to play one of the most important roles in metabolizing the exogenous materials. In insect, CYP is particularly known to detoxify toxic materials by adding oxygen molecule to the hydrophobic region of the materials. Thus, CYP-dependent metabolism is associated with the adaptation of insect to host plant chemicals. This in turn is known to be one of the driving forces for CYP diversification. In the present study, we cloned seven gene fragments of CYP 4 (CYP4) family from the midgut of the beet armyworm, Spodoptera exigua, through RT.PCT, Sequence analysis of the product showed the gene fragment to contain an open reading frame of ~150 amino acids, consisted of ~450 bp. The cloned gene fragments contained typical, conserved regions found in CYP4 family. Pairwise comparison of the deduced amino acid sequences among seven clones ranged in divergence from 0% to 52.86% and resulted in five distinct clones. The other two clones were identical or differ by one amino acid respectively to the corresponding clone, although each differed by ten nucleotides. Analysis of correlation between GenBank-registered, full length CYP4 and the cloned fragments resulted in statistically significant relationship ($r^{2}$ = 0.96085; p < 0.001), suggesting utility of the partial sequences as such full-length sequences. Phylogenetic analysis of the clones with GenBank-registered insect and mammal CYP4 family sequences by parsimony and several distance methods subdivided the clones into two groups: tones belonging to CYP4S and the others to CYP4M families.

• Genomics & Informatics
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• 제20권2호
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• pp.19.1-19.15
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• 2022

Alfalfa (Medicago sativa) is an important food and feed crop which rich in mineral sources. The WUSCHEL-related homeobox (WOX) gene family plays important roles in plant development and identification of putative gene families, their structure, and potential functions is a primary step for not only understanding the genetic mechanisms behind various biological process but also for genetic improvement. A variety of computational tools, including MAFFT, HMMER, hidden Markov models, Pfam, SMART, MEGA, ProtTest, BLASTn, and BRAD, among others, were used. We identified 34 MsWOX genes based on a systematic analysis of the alfalfa plant genome spread in eight chromosomes. This is an expansion of the gene family which we attribute to observed chromosomal duplications. Sequence alignment analysis revealed 61 conserved proteins containing a homeodomain. Phylogenetic study sung reveal five evolutionary clades with 15 motif distributions. Gene structure analysis reveals various exon, intron, and untranslated structures which are consistent in genes from similar clades. Functional analysis prediction of promoter regions reveals various transcription binding sites containing key growth, development, and stress-responsive transcription factor families such as MYB, ERF, AP2, and NAC which are spread across the genes. Most of the genes are predicted to be in the nucleus. Also, there are duplication events in some genes which explain the expansion of the family. The present research provides a clue on the potential roles of MsWOX family genes that will be useful for further understanding their functional roles in alfalfa plants.

• ALGAE
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• 제38권2호
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• pp.93-110
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• 2023

Progress in phylogenomic analysis has led to a considerable re-evaluation of former cyanobacterial system, with many new taxa being established at different nomenclatural levels. The family Geminocystaceae is among cyanobacterial taxa recently described on the basis of polyphasic approach. Within this family, there are six genera: Geminocystis, Cyanobacterium, Geminobacterium, Annamia, Picocyanobacterium, and Microcrocis. The genus Geminocystis previously encompassed two species: G. herdmanii and G. papuanica. Herein, a new species G. urbisnovae was proposed under the provision of the International Code of Nomenclature for algae, fungi, and plants (ICN). Polyphasic analysis was performed for five strains from the CALU culture collection (St. Petersburg State University, Russian Federation), and they were assigned to the genus Geminocystis in accordance with high 16S rRNA gene similarity to existing species, as well as because of proximity to these species on the phylogenetic trees reconstructed with RaxML and Bayes methods. Plausibility of their assignment to a separate species of the genus Geminocystis was substantiated with smaller cell size; stenohaline freshwater ecotype; capability to complementary chromatic adaptation of second type (CA2); distinct 16S rRNA gene clustering; sequences and folding of D1-D1' and B box domains of the 16S-23S internal transcribed spacer region. The second objective pursued by this communication was to provide a survey of the family Geminocystaceae. The overall assessment was that, despite attention of many researchers, this cyanobacterial family has been understudied and, especially in the case of the crucially important genus Cyanobacterium, taxonomically problematic.

• International Journal of Industrial Entomology and Biomaterials
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• 제3권1호
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• pp.57-62
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• 2001

A cDNA encoding the defensin homologue of a novel family member was isolated from the cDNA library of the firefly,Pyrocoelia rufa. Sequence analysis of the cDNA encoding the defensin homologue of P. rufa resulted that the 165 bp cDHA has an open reading frame of 55 amino acid residues. The deduced amino acid sequences of the defensin homologue gene from P. rufa showed identity to known mammalian defensins. Also 6 cystein residues in the P. rufa defensin homologue gene were conserved in the same position as those of known mammalian defensins. The result suggested that P. rufa defensin homologue is a novel member of the insect defensin family. Southern blot analysis suggests that there may be a single copy number of the P.rufa defensin homologue gene and their fat body-specific expression pattern at the transcriptional level was confirmed by Northern blot analysis.

• Parasites, Hosts and Diseases
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• 제53권1호
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• pp.109-112
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• 2015

Diphyllobothrium latum and Diphyllobothrium nihonkaiense are morphologically similar to each other, and only genetic method can differentiate clearly between the 2 species. A strobila of diphyllobothriid tapeworm discharged from a 7-year-old boy was analyzed to identify the species by mitochondrial cytochrome c oxidase subunit 1 (cox1) gene sequencing. He and his family (total 4 persons) ate slices of 3 kinds of raw fish 16 days before visiting our outpatient clinic. All family members complained of abdominal pain and watery diarrhea. They all expelled tapeworm strobilae in their stools. They were treated with a single oral dose of praziquantel and then complained of no more symptoms. The cox1 gene sequencing of the strobila from the boy revealed 99.9% (687/688 bp) similarity with D. nihonkaiense and only 93.2% (641/688 bp) similarity with D. latum. Thus, we assigned this tapeworm as D. nihonkaiense. This is the first report of D. nihonkaiense infection in a family in Korea, and this report includes the 8th pediatric case in Korea. The current report is meaningful because D. nihonkaiense infection within a family is rare.