黄吉娥;张婧;刘咏梅;杨芳;曾小菁;
HUANG Gie;ZHANG Jing;LIU Yongmei;YANG Fang;ZENG Xiaojing;the Affiliated Hospital of Guizhou Medical University;Guizhou Cancer Hospital;Guizhou Medical University;

• 1:贵州医科大学附院
• 2:贵州省肿瘤医院
• 3:贵州医科大学

摘要(Abstract)：

目的:观察血友病A(HA)患者凝血因子Ⅷ(FⅧ)基因内含子22倒位和内含子1倒位情况。方法:取75例HA患者静脉血,采用长距离PCR扩增技术(LD-PCR)检测内含子22和内含子1倒位情况,观察两种内含子倒位发生率,同时观察内含子22倒位在重型HA中的比例,比较有家族史和无家族史HA患者内含子22倒位发生率。结果:检出22号内含子倒位患者27例,检出率36%(27/75),全部为HA重型患者,占重型血友病A患者的57.4%(27/47);27例中有21例有家族史,有家族史患者内含子22号倒位的发生率高于无家族史患者(P<0.05);检出内含子1倒位1例,占1.3%(1/75)。结论:FⅧ基因内含子22倒位患者患重型HA的几率较高,内含子22倒位检测在重型HA的基因诊断中具有重要意义。
Objective: To observe the inversion of intron 22 and intron 1 in coagulation factor Ⅷ gene of patients with hemophilia A( HA). Methods: Venous blood was taken from 75 cases of HA patients. Long range PCR amplification technology( LD-PCR) was adopted to detect intron 22 and intron1 inversion. Two introns inversion occurrence was observed,and the intron 22 inversion proportion in severe HA patients was observed. The intron 22 inversion incidence was compared between patients of HA family history and no HA family history. Results: 27 patients with intron 22 inversion were found among the 75 patients,and detection rate was 36 %. All of 27 were severe HA patients,accounting for57. 4% of total 47 cases of severe HA patients( 27 /47). In 27 cases,there were 21 cases with family history,and the incidence of intron 22 inversion was higher than that in patients with no family history( P < 0. 05). There was 1 case of intron 1 inversion,accounting for 1. 3%( 1 /75). Conclusions:There is a higher probability of F Ⅷ gene intron 22 inversion in severe HA patients,and intron 22 inversion detection has important significance in severe HA patients gene diagnosis.

关键词(KeyWords)： 血友病A;凝血因子Ⅷ;基因倒位;诊断
hemophilia A;coagulation factor Ⅷ;gene inversion;diagnosis

Abstract:

Keywords:

基金项目(Foundation):

作者(Author): 黄吉娥;张婧;刘咏梅;杨芳;曾小菁;
HUANG Gie;ZHANG Jing;LIU Yongmei;YANG Fang;ZENG Xiaojing;the Affiliated Hospital of Guizhou Medical University;Guizhou Cancer Hospital;Guizhou Medical University;

Email:

DOI: 10.19367/j.cnki.1000-2707.2016.07.016

参考文献(References)：

• [1]袁凯锋,廖小梅.血友病的诊断和治疗[J].现代临床医学,2007(3):219-222.
• [2]Mantilla-Capacho JM,Beltran-Miranda CP,Luna-Zaizar H,et al.Frequency of intron 1 and 22 inversions of FactorⅧgene in Mexican patients with severe hemophilia A[J].Am J Hematol,2007(4):283-287.
• [3]张之南.血液病诊断及疗效标准[M].3版.北京:科学出版社,2007:191.
• [4]Lakich D,Kazazian HH,Antonarakis SE,et al.Inversions disrupting the factor VIII gene as a common cause of severe hemophilia A[J].Nat Genet,1993(2):236-241.
• [5]刘敬忠,刘强,梁燕,等.重型血友病甲基因诊断新技术的研究及其应用[J].高技术通讯,1998(9):40.
• [6]薛峰,杨仁池.100例血友病A患者凝血因子VIII基因突变与临床表型的研究[J].临床血液学杂志,2012(5):299-301.
• [7]Bagnall RD,Waseem N,Green PM,el al.Recurrent inversion breaking intron 1 of the factorⅧgene is a frequent cause of severe hemophilia A[J].Blood,2002(1):168-174.
• [8]闫振宇.血友病A患者凝血因子Ⅷ抑制物的形成及其危险因素分析[D].北京:中国协和医科大学,2007.
• [9]Naylor J,Buck D,Green P,et al.FactorⅧgene inversions in severe hemophilia A patients.Human Molecuar Genetics,1995(4):1217.

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