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한국인에서 혈액응고인자 IX 유전자의 제한효소 절편길이 다형성에 관한 연구
전봉균,이풍연,권오병,이정민,안주미,권무식 성균관대학교 생명과학자원연구소 1995 生命資源科學硏究 Vol.2 No.1
DNA-based prenatal diagnosis or carrier detection for hemophilia B in Korean has been developed by RFLPs. The polymorphisms were Taq I and Xmn I . Genomic DNAs were extracted from the blood of 56 females and 10 males at the age of twenty. The PCR primers were chemically synthesized by the method of phosphoramidite. Taq I-59 & -39 derived from flanking sequences of intron 4 generate 163nt fragment. And, Xmn 1-59 & -39, derived from the flanking sequences of intron 3 allow amplification 222nt fragment. Using Polymerase chain reaction(PCR) method, each segment(intron 3-Xmn I, intron 4-Taq I) was amplified with each primers and the genomic DNA as template. The amplified DNA fragments were treated with an appropriate restriction enzyme. The Xmn I polymorphism of the factor IX gene was detected on agarose gel as segments of 154 and 68nt, respectively. The heterozygote frequency, calculated from the allele frequencies (0.025/0.975) in intron 3-Xmn I polymorphism, was 4.8%. In case of intron 4-Taq I polymorphism, there is no polymorphic site. So that the heterozygote frequency calculated from the allele frequencies (0.0/1.0) in intron 4-Taq I polymorphism, was 0%. Thus, the two intragenic polymorphisms predicted to be informative was 4.8% in this study. The results are not correlated with those obtained from the Caucasian. It suggests that Korean exhibit different patterns of Xmn I and Taq I polymorphism in the human coagulation factor IX gene.
한국인에서 혈액응고인자 Ⅷ 유전자의 제한효소 절편길이 다형성에 관한 연구
전봉균,이풍연,권무식 성균관대학교 생명과학자원연구소 1994 生命資源科學硏究 Vol.1 No.2
Hemophilia A, an X chromosome-linked bleeding disorder affecting 1 in 5,000 males worldwide, due to the defect of blood coagulation factor Ⅷ. The wide range of clinical severity exhibited by haemophiliacs plus the hight incidence of sporadic cases suggest that hemophilia A be caused heterogeneous mutation of the gene. Restriction fragment length polymorphism(RFLP) is being used for prenatal diagnosis or carrier detection of the genetic disorder, However, the polymorphisms exhibits heterogeniety among races indicating that data from a people may not be applied to others. Two polymorphic sites(Bcl Ⅰ and Hind Ⅲ) of the factor Ⅷ gene were examined in Korean employing polymerase chain reaction(PCR). The PCR product of Bcl Ⅰ restriction was 948 nucleotides(nts) long, while that of Hind Ⅲ was 730 nts long. The former(Bcl Ⅰ) can generate three fragments(90nts, 100nts, and 480nts from 5' to 3' direction) with the polymorphic site, or two fragments(190nts and 480nts from 5' to 3' direction) wihout the polymorphic site. The latter(Hind Ⅲ) can generate three fragments(148nts, 286nts, and 514nts from 5' to 3' direction) with the polymorphic site, or two fragments(434nts and 514nts from 5' to 3' direction) without the polymorphic site. The heterozygote frequency calculated from the allele frequencies(0.754/0.246) of the Bcl Ⅰ (intron 18) polymorphism was 37.1%. The heterozygote frequency calculated from the allele frequencies(0.807/0.193) of the Hind Ⅲ polymorphism(intron 19) was 31.2%. Thus, the two intragenic polymorphisms predicted to be informative was 56.7% in these studies.
레스베라트롤 생합성 벼 (익산526) 캘러스의 유효성 및 대량 생산
전봉균(Bong-Kyun Jeon),이정원(Jung Won Lee),송지혁(Jihyeok Song),김수윤(Soo Yoon Kim) 한국산학기술학회 2014 한국산학기술학회 학술대회 Vol.2014 No.2
천연형 벼의 12번째 염색체에 레스베라트롤 합성 유전자 (resveratrol synthase, RS)가 발현가능하게 삽입되어 제작된, 레스베라트롤 생합성 벼(익산526 벼)의 종자를 캘러스 유도하여 기내배양을 통해 생물량과 유용물질을 대량 생산하고자 하였다. 또한 생산된 캘러스 추출물의 유효성 시험도 실시하여, 사업화 가능성을 알아보고자 하였다.
전봉균(Bong Kun Chun),김동욱(Dong Wook Kim),황문수(Moon Su Whang),이재관(Jae Koan Lee),설상영(Sang Young Soel),정정명(Jung Myung Chung),최하진(Ha Jin Choi) 대한내과학회 1991 대한내과학회지 Vol.40 No.2
N/A A clinical study was performed on 13 cases of leiomyosarcoma of the gastrointestinal system admitted to Inje Medical College, Pusan Paik Hospital, from 1981 to 1990, and the following results were obtained. 1) The locations of the leiomyosarcoma were the stomach (4 cases), the duodenum (4 cases), the jejunum (2 cases), the rectum (2 cases), and the ileum (1 case), in order of frequency. The age distribution was wide, from 12 years to 70 years, and the average age was 46 years. The ratio of male-to-female was 8:5, the male being 8 cases and the female 5 cases. 2) The most common symptom was gastrointestinal hemorrhage, 9 cases out of 13, and the duration of illness varied, from 3 days to 5 years, but was not closely related to the severity of illness. 3) The incidence of leiomyosarcoma of the gastrointestinal system compared with other malignant tumors in the same period was about 0.8%, the stomach 0.3%, the small intestine 22.6% (the duodenum 26.7%, the jejunum 22.2%, the ileum 14.3%), and the rectum 1.1%, which was consistent with other monographs. 4) All 13 cases underwent surgical intervention, and postoperative chemotherapy was done on 4 cases in which the regimen was VAC (Vincristine, Adriamycin, Cyclophosphamide). Postoperative radiotherapy was done in 1 case. In brief, leimyosarcoma of the gastrointestinal system was most frequent in the small intestine, gastrointestinal hemorrhage was the commonest clinical symptom, the duration of illness was mainly less than 1 year, all age groups were involved; and the overall incidence was less then 1% of the gastrointestinal malignancy.
韓國人에서 血友病 B 遺傳子(血液凝固因子 Ⅸ)의 構造 및 制限酵素 Dde Ⅰ, MnI Ⅰ 切片길이 多形性에 關한 分子 遺傳學的 考察
이풍연,전봉균,이정민,권오병,권무식 성균관대학교 생명과학자원연구소 1996 生命資源科學硏究 Vol.2 No.2
Hemophilia B, a human chromosome X-linked recessive disease, is a bleeding disorder resulting from defect or abnormality in blood coagulation factor IX. DNA-based prenatal diagnosis or carrier detection for hemophilia B in Korean has been developed by analyzing restriction fragment length polymorphisms(RFLPs). Two polymorphisms( Dde I and Mnl I) were investigated as follow. Genomic DNAs were extracted from blood of 50 females at the age of twenty. The primers were chemically synthesized by the method of phosphoamidite. Mnl I primers were derived from exon 6, while Dde I primers, from the flanking sequences of intron 1 of the factor IX gene. Genomic DNAs were amplified with Mnl I primers to generate 405 nts long fragments in all cases. They were digested with Mnl I to analyze the polymorphic site on agarose gel. No MnlI polymorphic site was found in all cases. Also, the genomic DNAs were amplified with Dde I primers to generate ca. 320 nts long fragments in all cases. These results are not correlated with those obtained from the Caucasian. It suggests that Korean could exhibit different patterns of Dde I and Mnl I polymorphisms in the gene for blood coagulation factor IX. Direct sequencing of the polymorpic sites will confirm the above sugestion.
한국인에서 혈우병 B 유전자 (혈액응고인자 IX) 의 구조 및 제한효소 절편길이 다형성에 관한 유전의학적 고찰 (II)
오보훈,권무식,전봉균,이풍연,이상준 대한산부인과학회 1995 Obstetrics & Gynecology Science Vol.38 No.12
한국인에서의 혈우병 B (Factor IX gene)의 다형성을 알아보기 위한 실험으로, 정상인 한국여성 50명으로부터 genomic DNA를 추출하였다. 이 genomic DNA를 주형으로 하여 각 polymorphic sites(Dde I 과 Mnl I site)를 포함하는 부위를 증폭하도록 설계된 primers를 이용하여 PCR을 수행하였다. 인공합성 DNA 단편을 알맞은 제한 효소로 처리하고, polymorphic sites의 유,무를 관찰하여 그 다형성을 고찰하였다. 실험 결과, 한국인에서 Dde I과 Mml I-RFLP에서 산출된 PIC는 0.0%로 Caucasian이 경우와 매우 큰 차이를 나타내었다. 따라서 백인 또는 다른 민족 집단에서 확립된 진단 방법은 한국인에게 적용될 수 없음을 보였다. Hemophilia B, a human chromosome X-linked recessive disease, is a bleeding disorder resulting from defect or abnormality in blood coagulation facotr IX, DNA-based prenatal diagnosis or carrier detection for hemophilia B in Korean has been developed by analyzing restriction fragment length polymorphisms(RFLPs). Two phlymorphisms(Dde I and Mnl I) were investigated as follow. Genomic DNAs were extracted from blood of 50 females at the age of twenty. The primers were chemically synthesized by the method of phosphoamidite. Mnl I primers were derived from exon 6, while Dde I primers, from the flanking sequences of intron 1 of the factor IX gene. Genomic DNAs were amplified with Mnl I primers to generate 405 nt long fragments in all cases. They were digested with Mnl I to analyze the polymorphic site on agarose gel. No Mnl I polymorphic site was found in all cases. Also, the genomic DNAs were amplified with Dde I primers to generate 320 nt long fragments in all cases. These results are not corrclated with those obtained from the Caucasian. It suggests that Korean could exhibit different patterns of Dde I and Mnl I polymorphisms in the gene for blood coagulation factor IX. Direct sequencing of the polymorpic sites will confirm the above suggestion.