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应用多聚酶链反应扩增因子ＩＸ（ＦＩＸ）基因外显子８的４８１ｂｐＤＮＡ片段，并利用双链ＤＮＡ循环测序，对两例血友病乙ＦＩＸ基因缺陷进行了研究。发现这两例都发生在３１１１９位的碱基替换，Ｇ（ＣＧＡ）→Ａ（ＣＡＡ）。该突变为ＦＩＸ基因ＣＧ双核苷酸突变热点，改变了正常ＦＩＸ的结构和凝血功能，因而导致血友病乙。重复点突变的发现，对血友病乙分子缺陷的发病机制研究十分重要。
The 481 bp DNA fragment of exon 8 of factor IX (FIX) gene was amplified by polymerase chain reaction (PCR) and double flanking DNA cycle sequencing was used to study the deficiency of B FIX gene in two hemophilia patients. Both cases were found to occur at base 31119, G (CGA) → A (CAA). This mutation is a hot spot for CG dinucleotide mutations in the FIX gene, altering the structure and coagulation function of normal FIX, resulting in hemophilia B. Duplicate point mutations found that the pathogenesis of hemophilia B molecule defects is very important.