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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.
초위성체 표지로 본 한국 재래닭 집단의 분자유전학적 구성
이풍연(Poongyeon Lee),연성흠(Seong-Heum Yeon),김재환(Jae-Hwan Kim),고응규(Yeoung-Gyu Ko),손준규(Jun-Kyu Son),이희훈(Hee-Hoon Lee),조창연(ChangYeon Cho) 韓國家禽學會 2011 韓國家禽學會誌 Vol.38 No.2
초위성체(MS) 표지를이용하여한국재래닭집단의각각의 분자유전학적 특성을 조사하고, 그 평가를 통해 한국 재래닭에 대한 품종 및 계통 분류의 기초를 마련하고자 본 연구를 수행하였다. 또한, 한국 재래닭 집단 내 및 집단간 유전적 변이성을 확인하고, 그 분류 및 특성 평가를 위한 MS 분석 체계를 마련하여 국내 가축유전자원의 관리에 활용코자 하였다. 국내 관리 기관 및 농가 보유 11개 계통의 한국 재래닭 및 상용계 462 수를 대상으로 19개 MS 표지로 분석한 결과, 한국 재래닭 집단은 상용계부터 분자유전학적으로 별개의 집단으로 구분되며, 특히 한국 재래닭 중 긴꼬리닭 계통은 상용계와 국내 토종닭 어느 집단과도 확연히 분리되는 것을 확인하였다. 한국 재래닭 집단 간의 유전거리는 0.11~0.18로 비교적 낮게 나타났으나, 유전적 균일도는 R 계통을 제외하고 0.86~0.88로 코니쉬 계통을 제외한 상용계의 0.95~0.97보다 비교적 낮았다. 다만, 긴꼬리닭 집단의 유전적 균일도는 0.91~0.97로 높게 나타났다. 본 연구를 통하여 한국 재래닭 집단 간의 유전적 차이 및 동질성, 그리고 집단내 의유전적 균일성을 확인하고, 긴꼬리닭 계통의 위치를 확인하였다. 이러한 결과는 국내 유전자원의 고유성을 인정할 수 있는 과학적인 근거로서, 국가 수준의 가축유전자원 평가, 관리의 기초자료로 활용될 수 있을 것이다. The study was conducted to select and optimize microsatellite (MS) markers for evaluate Korean Native Chicken (KNC) breeds in order to provide standard for the classification and breed definition of the indigenous breeds. The study also aimed to characterize and classify each KNC populations for inventory and management of avian genetic resources. A total of 462 chickens from 11 populations of chicken breeds including eight KNC breeds and three commercial chicken breeds were analyzed with 19 MS markers. KNC breeds, especially Long-Tail Chicken breeds, formed separate cluster from those commercial chicken breeds. Genetic distances between KNC populations (0.11~0.18) were relatively shorter. Genetic uniformity of KNC (except KNCR breed) (0.86~0.88) were higher than that of commercial breeds (except Cornish) (0.95~0.97). On the other hand, genetic uniformity of KNC Long Tail (KNCLT) were relatively higher (0.91~0.97). The result can be used to evaluate and manage animal genetic resources at national scale.
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.