CAJ | 학술논문

目的检测重型血友病A(HA)患者凝血因子Ⅷ(FⅧ)基因内含子22倒位(INV22)的发生频率,探讨部分重型HA患者的发病机制,并对患者家系女性成员进行携带者诊断.方法 126例重型HA患者均为男性,中位年龄14岁(4个月～63岁).应用一期法检测凝血因子Ⅷ活性(FⅧ∶C)；采用长距离PCR(LD-PCR)结合脉冲场凝胶电泳(PFGE)进行FⅧ基因INV22检测,并对其中3例INV22阳性患者进行家系调查.结果 126例重型HA患者中检出INV22阳性患者52例(41.3％).3个INV22阳性家系中疑为携带者的11例女性成员中检出携带者4例,其中3例为患者母亲,1例为患者胞姐.其中1个家系无家族史,该家系8名女性成员中除患者的姨表妹未检测外,其余7名成员检测结果显示患者母亲为INV22携带者,其外祖母及2个姨母、2个同胞姐妹及1个姨表姐均为非携带者.结论 LD-PCR结合PFGE检测FⅧ基因INV22可用于部分重型HA患者和携带者基因诊断.
목적 검측중형혈우병A(HA)환자응혈인자Ⅷ(FⅧ)기인내함자22도위(INV22)적발생빈솔,탐토부분중형HA환자적발병궤제,병대환자가계녀성성원진행휴대자진단.방법 126례중형HA환자균위남성,중위년령14세(4개월～63세).응용일기법검측응혈인자Ⅷ활성(FⅧ∶C)；채용장거리PCR(LD-PCR)결합맥충장응효전영(PFGE)진행FⅧ기인INV22검측,병대기중3례INV22양성환자진행가계조사.결과 126례중형HA환자중검출INV22양성환자52례(41.3％).3개INV22양성가계중의위휴대자적11례녀성성원중검출휴대자4례,기중3례위환자모친,1례위환자포저.기중1개가계무가족사,해가계8명녀성성원중제환자적이표매미검측외,기여7명성원검측결과현시환자모친위INV22휴대자,기외조모급2개이모、2개동포저매급1개이표저균위비휴대자.결론 LD-PCR결합PFGE검측FⅧ기인INV22가용우부분중형HA환자화휴대자기인진단.
Objective To investigate the incidence of intron 22 inversion (INV22) of factor Ⅷ (FⅧ) gene in severe hemophilia A (HA) patients,clarify its pathological mechanism,and identify INV22 carrier in the female family members.Methods One-stage method was used to assay the F Ⅷ activity (FⅧ:C) in 126 severe HA patients with a median age of 14 years old (range:4 months-63 years).INV22 was analyzed by long-distance polymerase chain reaction (LD-PCR) and pulsed field gel electrophoresis (PFGE),and pedigree were conducted in 3 involved HA families.Results Of all the 126 severe HA,52 (41.3％) cases had the INV22.Four females including 3 mothers and 1 sister of probands were diagnosed as INV22 carriers among 11 suspected carrier mosaicisms from 3 INV22 positive HA families.In 8 females from one family without HA history,the patient' s mother was a INV22 carrier,but her maternal grandmother,2 maternal aunts,2 female siblings and 1 elder female cousin were negative.Conclusion LD-PCR and PFGE could be used to diagnose severe HA patients with INV22 and identify the carriers.