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Factor VIII gene deletions in haemophilia A patients in Czechoslovakia
Author(s) -
Křepelová Anna,
Vorlová Zdena,
Zavadil Jiŕí,
Brdička Radim
Publication year - 1992
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1992.tb08219.x
Subject(s) - exon , haemophilia a , intron , haemophilia , microbiology and biotechnology , southern blot , haemophilia b , biology , complementary dna , genetics , gene , pedigree chart , genomic dna , restriction site , restriction enzyme
Summary. Genomic DNA from 90 Czechoslovak haemophilia A patients from 81 pedigrees was analysed by Southern blotting and hybridization with factor VIII cDNA probes. Three partial deletions of the factor VIII gene were identified and characterized: a 4.8 kilobase (kb) deletion eliminating exon 10 in one patient with severe haemophilia A without inhibitor, a 6.1 kb deletion eliminating the 3’ part of intron 13 and the 5’ part of exon 14 in two related severe haemophiliacs, but only one of them produced inhibitor, and a 4.6 kb deletion eliminating the 3’ part of intron 13 and the 5’ part of exon 14 in a severe haemophiliac with high‐titre inhibitor. Besides these three deletions, three different restriction site variants without apparent loss of DNA sequence were found.