血友病A保因者のRestriction fragment length polymorphism(RFLP)解析 : Ⅱ. 血友病A家系における保因者診断

Abstract

Carriers of hemophilia A were detected in 30 families by means of five intragenic and one extragenic restriction fragment length polymorphisms. The heterozygosity rates of BclⅠ RFLP, XbaⅠ RFLP, BglⅠ RFLP, Hind Ⅲ RFLP, and MspⅠ RFLP were 23.3%, 60.0%, 10.0%, 23.3%, and 23.3% respectively in 30 hemophilia A mothers. The combination of BclⅠ and XbaⅠ RFLPs was most effective and useful, and detected informatively 63.3% heterozygosity in 30 hemophilia A mothers. In 17 of 30 hemophilia A mothers (56.7%), the extragenic factor Ⅷ, ST14-1 probe, was useful for carrier detection. The combination of BclⅠ RFLP, XbaⅠ RFLP and ST14-1 probe detected 26 carriers in 30 hemophilia A mothers (86.7%). The examples of carrier detection by RFLPs are presented in three families of hemophilia A.