한국인 집단내에서 혈액 응고인자 VIII유전자의 Intron 18-Bcl I 다형성에 관한 연구 = A Study on Intron 18-Bcl I Polymorphism of Factor VIII Gene in Korean Population

다국어 초록 (Multilingual Abstract)

Hemophilia A, an X chromosome linked bleeding disorder afecting 1 in 10,000 males worldwide, result from defect in blood coagulation factor VIII. The wide range of clinical severity exhibited by himophilias plus the high incidence of sporadic cases suggested that hemophilia A is caused by hiterogenous mutations of the gene. In the past, prenatal diagnosis using coagulation assays was done in fetal blood obtained by fetoscopy at 18 to 20 weeks of gestation. But the procedure of fetoscope entails higher risk of fetal loss (about 5%) and the result of coagulation assays of fetal blood is sometimes equivocal. Development of molecular genetics allows accurate carrier detection and prenatal diagnosis from fetal cells obtained by chorionic villus sampling or amniocentesis. Restriction fragment length polymorphisms (RFLPs) can be used as linkage markers to determine the inheritance of normal or mutant factor VIII gene. It is important to assess the allelic frequencies of currently useful RFLP in Korean population because the RFLP detected in Caucasian may differ from that of Korean. We have studied patterns of Bcl I RFLP of the factor VIII gene in Korean. The resultant 948-bp fregment was amplified using Bcl A and Bcl B oligonucleotides as primers. The fragment (948bp) was digested with Bcl I, and RFLP patterns were analyzed. The absence of the polymorphic Bcl I site was indicated by a 434 bp fragment, whereas its presence was indicated by fragments of 286 and 148 bp, and a constant 514 bp fragment was provided. Thirty one women of forty women showed 514/286; 148 bp pattern and eight women showed 514/434/286; 148 bp pattern. The percentage f heterozygote was 20%.