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자폐아동에서 FMR-1 유전자에 대한 분자유전학적 연구
강경미,곽동일,이민수 大韓神經精神醫學會 1999 신경정신의학 Vol.38 No.6
연구목적: 자폐장애가 유전성이 있다고 제시하는 많은 쌍생아 및 가족연구와 유전자 연구에도 불구하고 이 질환의 유전방식과 관련 유전자는 현재까지 알려져 있지 않고, 이 장애는 임상적으로 이질적 장애이며 유전방식과 관련 유전자는 현재까지 알려져 있지 않고, 이 장애는 임상적 이질적 장애이며 유전적으로도 다인자 질환일 가능성이 높은 것으로 생각된다. 본 연구에서는 자폐장애와 FMR-1 유전자간의 연관성을 조사하고자 자폐장애 아동 총 66명을 대상으로 분자유전학적 검사를 시행하였다. 방 법: 연구대상군은 DSM-Ⅳ 진단기준으로 자폐장애가 해당하고 K-CARS 점수가 30점 이상인 아동들을 대상으로 하였다. Genomic DNA를 전혈에서 추출한후, 탐침 Xho/PstⅠ과 두 개의 제한효소(EcoR Ⅰ, Eag Ⅰ)를 사용하여 썼던 블롯팅을 시행하였다. 결 과: 연구대상 총 66명중 1명의 남아가 메칠화된 모자이크의 양상을 보이었고, 3명의 남아와 2명의 여아는 불완전 변이 양상을 보이었으나 완전 변이의 양상은 없었다. 결 론: 본 연구에서는 FMR-1 유전자가 자폐장애의 유전적 요인과 관련이 있다는 이전의 보고를 뒷받침할만한 명백한 결과를 얻지 못하였다. Objectives: To elucidate an association of the fragile X syndrome with autism, Southern blot analysis was performed in 66 autistic children aged from 2 years to 11 years. Methods: Subjects were 66 autistic children with of autistic disorder diagnosed by DSM-Ⅳ criteria and Childhood Autism Rating Scale-Korean version. Genomic DNA was extracted from peripheral blood and DNA was used to detect a FMR(Fragile Mental Retardation)-1 gene. Xho/PstI probes and two restriction enzymes(EcoRI, EagI)were used for Southern blot analysis. Results: There were one boy with a methylated mosaic pattern and 3 boys and 2 girls with an unmethylated premutation band. But there was no full mutation pattern. Conclusion: Although the possibility of the relationship between autistic disorder and FMR-1 gene has been suggested, the results from this study do not provide any definite association of FMR-1 gene with autism in autistic children.
크릴분말이 콜레스테롤 및 카드뮴 식이 흰쥐의 간 및 심장 지질에 미치는 영향
조영숙,박석규,박정로,손미예,문주석,곽수동 순천대학교 기초과학연구소 1992 基礎科學硏究誌 Vol.3 No.-
In order to investigate effects of krill on lipid components of liver and heart in cholesterol and cadmium-fed rats, male Sprague-Dawley rats were raised for 4 weeks with 8 experimental diets. Krill used in this experiment contained 65.4%(w/w) of protein and 16.7% of lipid. Krill contained 35% of polyunsaturated fatty acids and more unsaturated fatty acids than saturated fatty acids by 2 times. Amino acid content of krill was high in order of Glu, Asp, Tyr and Lys. Rats fed krill diet showed more food intake and weight gain compared with control group. However, food efficiency ratio and weight of liver and heart were not significantly different. The ingestion of cadmium resulted in a severe restriction in growth rate with normal or mild reduction of liver and heart weight. Cadmium also caused a significant decrease in food efficiency ratio. The contents of total and free cholesterol of liver and heart in rats fed krill diets were similar or slightly higher than those fed control diet. Dietary krill also showed no significant difference in liver and heart cholesterol levels in rats with cadmium ingestion. The contents of phospholipid and triglyceride in liver and heart of krill group were slightly higher than those of control group. Supplement of krill reduced triglyceride content of liver in rats ingested with cadmium without any effect on the level of phospholipid and heart lipids. The concentration of cadmium in plasma significantly increased with dietary krill. However, the krill supplement did not influence the concentration of cadmium in liver or heart. A significant accumulation of lipid in liver tissue was observed in all dietary groups but standard group. However, no difference in degree of lipid accumulation was found among the dietary groups. Necrosis and hemolysis of liver in all dietary groups were not shown.
Dong-Mi Kwak 한국실험동물학회 2006 Laboratory Animal Research Vol.22 No.3
Genomic DNA fragmentation was induced in intestinal cell nuclei of Haemonchus contortus by treatment of fenbendazole anthelmintic. Elucidating mechanisms to induce DNA fragmentation by an ectopic treatment might identify a novel way to induce irreparable damage to parasites. Since enzymatic deoxyribonucleases (DNases) are common cellular mediators that produce DNA fragmentation, research has been investigated to identify DNases of H. contortus. Among DNases detected, the DNases secreted from H. contortus adult worms occurred at 34, 36, 37 and 38.5 kDa. This research was conducted to further fractionate DNases secreted from H. contortus adult worms using chromatographic methods in order to elucidate roles of the individual DNases. The chromatographic methods applied included phenyl Sepharose, diethylaminoethyl Sepharose, DNA cellulose and Concanavalin-A Sepharose. According to characteristics of columns, some DNases were resolved in different fractions. Among chromatographic methods used, the 37 kDa acidic DNase could be separated from other DNases using fractionation with DNA cellulose or diethylaminoethyl Sepharose. While DNases of 34, 36 and 38.5 kDa were eluted in the 0.1 M NaCI fraction of diethylaminoethyl column and in the 0.1 M NaCI fraction of DNA column, separation of each DNase was not successful by the methods applied. Thus, additional steps are required for isolation of DNases at 34, 36 and 38.5 kDa. The research has laid a foundation to investigate the role of individual DNases secreted from H. contortus adult worms in mediating DNA fragmentation.
Babesia bovis rap-1 및 B equi ema-1 intergenic 뉴클레오타이드에서 프로모터로 추정되는 위치 분석
곽동미 ( Dong Mi Kwak ) 한국가축위생학회 2004 韓國家畜衛生學會誌 Vol.27 No.1
Babesia bovis rap-1 and B equi ema-1 intergenic(IG) nucleotides were analyzed and compared for identifying putative promoter sites using computer programs. The reason to initiate this research was to determine if IG nucleotides of Babesia genes that are predicted to be involved in erythrocyte invasion have functions regulating gene transcription and translation, which can be applied to functional gene knockout. Four IG sequences used included BbIG5(B bovis rap-1 5` IG), BbIG3(B bovis rap-1 3` IG), BeIG5(B equi ema-1 5` IG) and BeIG3(B equi ema-1 3` IG). BbIG5 contained a putative promoter at nucleotide 197-246 with a predicted TATA-box and a transcription start site. BbIG3 had a putative promoter at nucleotide 270-320 with two predicted TATA-boxes and a transcription start site. BeIG3 had a putative promoter at nucleotide 155-205 with a predicted TATA-box and a transcription start site. Putative promoter sites in these three sequences mentioned above were identified with score cutoff 0.8, which means detection of about 40% recognized promoters with 0.1-0.4% false positives. In contrast, BeIG5 had a putative promoter at nucleotide 163-213 with score cutoff 0.8, but neither TATA-box nor transcription start site were recognized. However, BeIG5 had a putative promoter at nucleotide 388-438 with a predicted TATA-box and a transcription start site when score cutoff was decreased to 0.18, which means detection of about 70% recognized promoters with 2.2-5.3% false positives. These sequences with putative promoters can be tested if they have functions regulating gene transcription and translation.
Babesia euqi ema-1 5` intergenic 뉴클레오타이드의 프로모터 위치 확인: I. PCR 증폭 및 제한효소지도
곽동미 ( Dong Mi Kwak ) 한국가축위생학회 2004 韓國家畜衛生學會誌 Vol.27 No.1
Babesia equi ema-1 5` intergenic(IG) nucleotide was PCR amplified and analyzed for restriction sites in order to identify a promoter region in this IG nucleotide sequence. B equi ema-1 5` IG specific primers identified a 1268 bp PCR product. The sequence had restriction sites for 34 restriction enzymes when analyzed by a computer program. Among them, 26 enzymes had only one restriction site, but the others had more than one sites. When four restriction enzymes(Bgll, HindⅢ, Kpnl and BamHl) were treated to digest the 1268 bp nucleotide, they had restriction sites as expected by the computer program. Information of restriction sites in the 1268 bp IG nucleotide will be applied to select restriction enzymes for cloning the IG nucleotide to a vector.