DNAプローブを用いた血友病Aの保因者診断

—4種類のRFLP (restriction fragment length polymorphism)用いて—

抄録

We analyzed DNA samples of Japanese individuals to see whether four intragenic and extragenic RFLPs (restriction fragment length polymorphisms) were useful for carrier detection and prenatal diagnosis of hemophilia A in affected Japanese families, since DNA polymorphisms are sometimes different among ethnic groups.
Frequencies of heterozygotes in the Japanese females population were 38.3%, 17.4%, 27.9% and 75% for exon14-26/Bcl I, exon26/Bgl I, DX13/Bgl II and St14/Taq I RELPs, respectively. In application for carrier detection of hemophilia A, the intragenic RFLPs were informative in 5 out of 14 hemophilia families (35.7%), and the extragenic RFLPs were informative in 11 out of 14 hemophilia A families (78.6%). When combined, four intragenic and extragenic RFLPs were informative in 11 out of 14 hemophilia A families (78.6%).
No recombination was observed between the St14 locus and the factor VIII gene, and also between the DX13 locus and the factor VIII gene, but a recombination between the St14 locus and the DX13 locus was observed in one case.