血友病Bᴍ症例のpolymerase chain reaction後の増幅DNAを用いたsingle strand conformation polymorphism法による遺伝子異常の検討

Abstract

Gene abnormalities in 5 hemophilia Bᴍ patients were detected by amplified DNA following single strand comformation polymorphism (SSCP) method. The amplification was performed by polymerase chain reaction (PCR) method using 8 pairs of oligonucleotide primers covering 8 exons. The SSCP method revealed that gene abnormalities were found on exon f in factor Ⅸ Kashihara and on exon h in factor Ⅸ Amagasaki, factor Ⅸ Niigata, factor Ⅸ Kiryuu and factor Ⅸ Takatsuki. DNA sequence analysis detected a single identical G to T transition at nucleotide 20,524 in factor Ⅸ Kashihara, C to T transition at nucleotide 31,290 in factor Ⅸ Niigata, G to A transition at nucleotide 31,053 in factor Ⅸ Amagasaki, T to A transition at nucleotide 31,059 in factor Ⅸ Kiryuu and G to A transition at nucleotide 31,278 in factor Ⅸ Takatsuki.