748 Detection of Intron 22 Gene Inversion (Common Mutation) in Severe Hemophilia a in Khouzestan Province
نویسندگان
چکیده
منابع مشابه
Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A.
Two recent reports suggest that approximately 50% of the cases of severe hemophilia A (factor VIII:C < 0.01 U/mL) may be caused by a gross rearrangement of the factor VIII gene. The mutation involves genomic sequence from exon 1 to within intron 22 of the gene in an inversion event. This rearrangement can be detected on a Southern blot using a probe that is complementary to sequence from within...
متن کاملIntron 1 inversion mutation among Turkish hemophilia A patients.
Hemophilia A is an X-linked bleeding disorder resulting mostly from heterogeneous point mutations in the factor VIII (F8) gene. Small/large gene deletions, insertions and gross gene rearrangements underlie the molecular pathogenesis of the disease. Two large inversion mutations due to intrachromosomal recombinations between inverted repeats found in intronic sequences and upstream regions of th...
متن کاملIn situ genetic correction of F8 intron 22 inversion in hemophilia A patient-specific iPSCs
Nearly half of severe Hemophilia A (HA) cases are caused by F8 intron 22 inversion (Inv22). This 0.6-Mb inversion splits the 186-kb F8 into two parts with opposite transcription directions. The inverted 5' part (141 kb) preserves the first 22 exons that are driven by the intrinsic F8 promoter, leading to a truncated F8 transcript due to the lack of the last 627 bp coding sequence of exons 23-26...
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Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...
متن کاملFrequency of factor VIII intron 1 inversion in a cohort of severe hemophilia A Italian patients.
In the January 2003 issue of this journal, Tizzano EF et al. 1 reported their data on the frequency of the intron 1 inversion of the factor VIII (FVIII) gene in a cohort of Spanish hemophilia A (HA) patients. It seems now well established that the mutation is recurrent in severely HA patients, even though with a low frequency. To date, this mutation has also been investigated in the British 2 a...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2012
ISSN: 0003-9888,1468-2044
DOI: 10.1136/archdischild-2012-302724.0748