한국인에서 혈액응고인자 IX 유전자의 제한효소 절편길이 다형성에 관한 연구 = Studies on Restriction Fragment Length Polymorphisms of Factor IX Gene in Korean

다국어 초록 (Multilingual Abstract)

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.

목차 (Table of Contents)

• I. 서론
• Ⅱ. 재료 및 방법
• 1. 재 료
• 1) 시 약
• 2) 주요 기기
• 2. 방 법
• 1) 혈액으로부터 Genomic DNA분리
• 2) Taq I, Xnm I-RFLP DNA primers의 합성
• 3) PCR 기법을 이용한 Factor Ⅸ DNA 다형성 부위의 증폭
• 4) 제한효소 절편길이 다형성 분석
• Ⅲ. 결과 및 고찰