Detection of intron 1 and 22 inversions in the factor VIII gene by IS-PCR modified by capillary electrophoresis in patients and carriers of severe haemophilia A

被引:0
|
作者
Martinez-Contreras, Rosa [1 ]
Garcia-Lopez, Silvia [2 ]
Luna-Zaizar, Hilda [3 ]
Jaloma-Cruz, Ana [4 ]
机构
[1] Univ Guadalajara, Ctr Univ Ciencias Salud, Guadalajara, Jalisco, Mexico
[2] Univ Autonoma Sinaloa, Fac Biol, Culiacan, Sinaloa, Mexico
[3] Univ Guadalajara, Ctr Univ Ciencias Exactas & Ingn, Guadalajara, Jalisco, Mexico
[4] Inst Mexicano Seguro Social, Ctr Invest Biomed Occidente, Guadalajara, Jalisco, Mexico
关键词
F8; inversions; fluorescent-capillary electrophoresis; IS-PCR;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
PP-004 (16
引用
收藏
页码:5 / 6
页数:2
相关论文
共 50 条
  • [41] Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A
    Theophilus, BDM
    Enayat, MS
    Williams, MD
    Hill, FGH
    HAEMOPHILIA, 2001, 7 (04) : 381 - 391
  • [42] The study of introns 22 and 1 inversions of the F8 gene in severe hemophilia A (HA) patients by inverse shifting polymerase chain reaction (IS-PCR)
    Roozafzay, Narges
    Kokabee, Leila
    Karimipoor, Hoorfar Morteza
    CLINICAL BIOCHEMISTRY, 2011, 44 (13) : S276 - S276
  • [43] FACTOR-VIII GENE INVERSIONS IN SEVERE HEMOPHILIA-A PATIENTS
    VANDEWATER, NS
    WILLIAMS, R
    NELSON, J
    BROWETT, PJ
    PATHOLOGY, 1995, 27 (01) : 83 - 85
  • [44] Prevalence of the intron 22 inversion of the factor VIII gene and inhibitor development in Polish patients with severe hemophilia A
    Sawecka, J
    Skulimowska, J
    Windyga, J
    Lopaciuk, S
    Koscielak, J
    ARCHIVUM IMMUNOLOGIAE ET THERAPIAE EXPERIMENTALIS, 2005, 53 (04) : 352 - 356
  • [45] Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A
    Andrikovics, H
    Klein, I
    Bors, A
    Nemes, L
    Marosi, A
    Váradi, A
    Tordai, A
    HAEMATOLOGICA, 2003, 88 (07) : 778 - 784
  • [46] Intron 1 and 22 inversions of FVIII gene in severely affected haemophilia A Greek children: Genetic counseling
    Kapsimali, Z.
    Platokouki, H.
    Pergantou, H.
    Aronis, S.
    PEDIATRIC BLOOD & CANCER, 2007, 49 (03) : 382 - 382
  • [47] Genotyping of intron 22 inversion of factor VIII gene for diagnosis of hemophilia A by inverse-shifting polymerase chain reaction and capillary electrophoresis
    Pan, Tzu-Yu
    Wang, Chun-Chi
    Shih, Chi-Jen
    Wu, Hui-Fen
    Chiou, Shyh-Shin
    Wu, Shou-Mei
    ANALYTICAL AND BIOANALYTICAL CHEMISTRY, 2014, 406 (22) : 5447 - 5454
  • [48] Genotyping of intron 22 inversion of factor VIII gene for diagnosis of hemophilia A by inverse-shifting polymerase chain reaction and capillary electrophoresis
    Tzu-Yu Pan
    Chun-Chi Wang
    Chi-Jen Shih
    Hui-Fen Wu
    Shyh-Shin Chiou
    Shou-Mei Wu
    Analytical and Bioanalytical Chemistry, 2014, 406 : 5447 - 5454
  • [49] INVERSIONS OF THE FACTOR-VIII GENE IN SWEDISH PATIENTS WITH SEVERE HEMOPHILIA-A
    LJUNG, R
    SJORIN, E
    EUROPEAN JOURNAL OF HAEMATOLOGY, 1995, 54 (05) : 310 - 313
  • [50] Intron 22-specific long PCR for the Xba I polymorphism in the factor VIII gene
    El-Maarri, O
    Oldenburg, J
    Çaglayan, SH
    BRITISH JOURNAL OF HAEMATOLOGY, 1999, 105 (04) : 1120 - 1122