Detection of Intron22 Mutations in Iraqi Female Carriers in Wasit Province with Hemophilia A

Authors

  • Maysoon Mohammed Hassan

Keywords:

hemophilia A, factor 8 gene, carriers, intron 22 mutations

Abstract

Abstract not found

How to Cite

Detection of Intron22 Mutations in Iraqi Female Carriers in Wasit Province with Hemophilia A. (2017). Global Journal of Medical Research, 17(F1), 13-23. https://medicalresearchjournal.org/index.php/GJMR/article/view/1266

References

A James (2005) More than menorrhagia: a review of the obstetric and gynaecological manifestations of bleeding disorders. 11(4), 295-307.

L Salazar-Sánchez, G Jiménez-Cruz, M Mendez, P Chaverri, P Alvarado, W Schröder, K Wulff, M Sandoval, F Herrmann, A Pavlova, J Oldenburg (2010) Molecular analysis of FVIII gene in severe HA patients of Costa Rica. 30(1), 150-152.

P Fogarty, C Kessler, B Hemophilia (2013) Consultative Hemostasis and Thrombosis. 45-59.

N Bogdanova, A Markoff, R Eisert, C Wermes, H Pollmann, A Todorova, M Chlystun, Nowak-Göttlu, J Horst (2007) Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. 28(1), 54-60.

A Anjali, Manuel Sharathkumar, Carcao (2011) Clinical Advances in Hemophilia Management. 57, 910-920.

P Fay (1988) Reconstitution of human factor VIII from isolated subunits. 262(2), 525-531.

P Botton, K Maggs, A Hemophilia, B (2003) Unknown Title. 24, 361.

J Graw, H Brackmann, J Oldenburg, R Schneppenheim, M Spannagl, R Schwaab (2005) Hemophilia A: From mutation analysis to new therapies. 6, 488-501.

C Kasper, C Buzin (2009) Genetics of Hemophilia A and B. An Introduction for Clinicians. 27-29.

V Byams, P Kouides, R Kulkarni, J Baker, D Brown, J Gill, A Grant, A James, B Konkle, J Maahs, M Dumas, S Mcalister, D Nance, D Nugent, C Philipp, J Soucie, E Stange (2011) Surveillance of female patients with inherited bleeding disorders in United States Haemophilia Treatment Centres. 17(1), 1-45.

J Haldane (1935) The rate of spontaneous mutation of a human gene. 31(3), 317-326.

Ulla Hedner, David Ginsburg, Jeanne Lusher, Katherine High (2000) Congenital Hemorrhagic Disorders: New Insights into the Pathophysiology and Treatment of Hemophilia. 2000(1), 241-265.

Jane Gitschier, William Wood, Therese Goralka, Karen Wion, Ellson Chen, Dennis Eaton, Gordon Vehar, Daniel Capon, Richard Lawn (1984) Characterization of the human factor VIII gene. 312(5992), 326-330.

R Bagnall, N Waseem, P Green, F Giannelli (2002) recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. 99(1), 168-174.

Delia Lakich, Haig Kazazian, Stylianos Antonarakis, Jane Gitschier (1993) Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. 5(3), 236-241.

Judith Rosslter, Michele Young, Michelle Kimberland, Pierre Hutter, Rhett Ketterling, Jane Gitschier, Jürgen Horst, Michael Morris, Daniel Schaid, Phillppe De Moerloose, Steve Sommer, Haig Kazazian, Styllanos Antonarakis (1994) Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. 3(7), 1035-1039.

R Bagnall, F Giannelli, P Green (2005) Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture. 3(11), 2598-2599.

R Bagnall, F Giannelli, P Green (2006) Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection. 4(3), 591-598.

S Antonarakis, J Rossiter, M Young, J Horst, P De Moerloose, S Sommer, R Ketterling, Hh Kazazian, C Negrier, C Vinciguerra (1995) Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. 86(6), 2206-2212.

C De Brasi, D Bowen (2008) Molecular characteristics of the intron 22 homologs of the coagulation factor VIII gene: an update. 6(10), 1822-1824.

Liliana Miguel Martín Abelleyro, Carmen Rossetti, Claudia Radic, Miguel Candela, Irene Larripa, Carlos Daniel, De Brasi (2012) Are int22h-mediated deletions a common cause of hemophilia?. 91(4), 633-636.

H Youssoufian, H Kazazian, D Phillips, S Aronis, G Tsiftis, V Brown, S Antonarakis (1986) Recurrent mutations in hemophilia A give evidence for CpG mutation hotspots. 324(6095), 380-382.

B Levinson, S Kenwrick, D Lakich, G Hammonds, J Gitschier (1990) A transcribed gene in an intron of the human factor VIII gene. 7(1), 1-11.

Barbara Levinson, Susan Kenwrick, Pamela Gamel, Karen Fisher, Jane Gitschier (1992) Evidence for a third transcript from the human factor VIII gene. 14(3), 585-589.

D Freije, D Schlessinger (1992) 1.6-Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus. 51, 66-80.

M Peters, C Ross (2001) Isolation of a 40 k-Da Huntingtin -associated protein. 276, 3188-3194.

K Frazer, S Murray, N Schork, E Topol (2009) Human genetic variation and its contribution to complex traits. 10, 241-251.

Jennifer Naylor, Astrid Brinke, Shella Hassock, Peter Green, Francesco Giannelli (1993) Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. 2(11), 1773-1778.

S Preethi, D Shrimati, S Chandrakala, G Kanjaksha (2014) Mutations in Intron 1 and Intron 22 Inversion Negative Haemophilia A Patients from Western India. 9(5), 1-9.

Mantilla Capacho, J Beltrán-Miranda, C Luna-Záizar, H Aguilar-López, L Esparza-Flores, M López-Guido, B Troyo-Sanromán, R Jaloma-Cruz, A (2007) Frequency of intron 1 and 22 inversions of Factor VIII gene in Mexican patients with severe hemophilia A. 82(4), 283-287.

J Becker, R Schwaab, A Möller-Taube, U Schwaab, W Schmidt, H Brackmann, T Grimm, K Olek, J Oldenburg (1996) Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. 58(4), 657-670.

J Naylor, P Green, F Giannelli, C Rizza (1992) Factor VIII gene explains all cases of haemophilia A. 340(8827), 1066-1067.

M Martín-Salces, A Venceslá, M Alvárez-Román, I Rivas, I Fernandez, N Butta, M Baena, P Fuentes-Prior, E Tizzano, V Jiménez-Yuste (2010) Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p. Phe2127. 104(4), 718-723.

Pier Mannucci, Edward Tuddenham (2001) The Hemophilias - From Royal Genes to Gene Therapy. 344(23), 1773-1779.

C Ludlam, K Pasi, P Bolton-Maggs, P Collins, A Cumming, G Dolan, A Fryer, C Harrington, F Hill, I Peake, D Perry, H Skirton, M Smith (2005) A framework for genetic service provision for haemophilia and other inherited bleeding disorders. 11(2), 145-163.

S Thomas, D Herbert, A Street, C Barnes, J Boal, P Komesaroff (2007) Attitudes towards and beliefs about genetic testing in the haemophilia community: a qualitative study. 13(5), 633-641.

C Chi, N Shiltagh, C Kingman, D Economides, C Lee, R Kadir (2006) Identification and management of women with inherited bleeding disorders: a survey of obstetricians and gynaecologists in the United Kingdom. 12(4), 405-412.

I Plug, E Mauser-Bunschoten, A Brocker-Vriends, H Van Amstel, J Van Der Bom, J Van Diemen-Homan, J Willemse, F Rosendaal (2006) Bleeding in carriers of hemophilia. 108, 52-56.

A Laurie, A Hill, J Harraway, A Fellowes, G Phillipson, P Benny, M Smith, P George (2010) Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches. 8(4), 783-789.

I Peake, D Lillicrap, V Boulyjenkov, E Bri??t, V Chan, E Ginter, E Kraus, R Ljung, P Mannucci, K Nicolaides, E Tuddenham (1993) Report of a joint WHO/WFH meeting on the control of haemophilia. 4(2), 313-344.

Detection of Intron22 Mutations in Iraqi Female Carriers in Wasit Province with Hemophilia A

Published

2017-03-01

How to Cite

Detection of Intron22 Mutations in Iraqi Female Carriers in Wasit Province with Hemophilia A. (2017). Global Journal of Medical Research, 17(F1), 13-23. https://medicalresearchjournal.org/index.php/GJMR/article/view/1266