血友病A保因者のRestriction fragment length polymorphism(RFLP)解析 : Ⅰ. 正常女性における第Ⅷ因子遺伝子内RFLP

Abstract

The restriction fragment length polymorphisms of factor Ⅷ gene in 35 normal subjects (5 males and 30 females) were analysed by Southern blot technique. Polymorphism by the BclⅠ digestion detected the smaller allele (0.8 kb) in 86.2% and the larger allele (1.2 kb) in 13.8% of normal 65 X chromosomes. Heterozygosity rate of BclⅠ RFLP was 26.7% in 30 normal females. Polymorphism by the XbaⅠ digestion detected the smaller allele (1.4 kb) in 60% and the larger allele (6.2 kb) in 40% in normal 65 X chromosomes. Heterozygosity rate of XbaⅠ RFLP was 63% in 30 normal females. Polymorphism by the BglⅠ digestion detected the smaller allele (5.0 kb) in 86.2% and the larger allele (20.0 kb) in 13.8% in the normal 65 X chromosomes. Heterozygosity rate of BglⅠ RFLP was 23.3% in 30 normal females. Polymorphism by the Hind Ⅲ or Msp Ⅰ digestion detected the smaller allele (2.6 kb or 4.3 kb) in 13.8% and the larger allele (2.7 kb or 7.5 kb) in 86.2% in normal 65 X chromosomes. The combination of BclⅠ and XbaⅠ RFLPs was most effective and useful, and detected informativerly 66.7% heterozygosity in 30 normal females. It was suggested that hemophilia A families could be analyzed by these RFLPs.