This will benefit both genetic counseling and the study of the relationship between genotype and inhibitor development. Our data highlight the importance of analysis of the intron-1 inversion in the severe HA cases from Republic of Macedonia. No intron-1 inversion was detected among HA patients from Bulgaria. Analysis of the factor VIII gene haplotypes demonstrated that the intron-1 breaking inversion has occurred independently in three (out of four) patients. None of these patients exhibited inhibitor development. We have identified the presence of intron-1 inversion in four out of 57 (7.0%) severe HA patients from Republic of Macedonia. Two PCR reactions flanking each int1h repeat (intronic and extragenic) were used. Patients negative for the intron-22 inversion, were screened for the intron-1 inversion. DNA samples from all 97 patients were analyzed for the presence of intron-22 inversion. The aim or this study was to determine the frequency of intron-1 inversion among 57 severe hemophilia A patients from Republic of Macedonia and 40 patients from Republic of Bulgaria. The prevalence of this mutation is between 0.6 and 5%, according to reports from different groups. (Blood, 2002) reported an inversion of intron- 1 as a further recurrent mutation. The most recurrent molecular defect is the inversion involving the intron-22, accounting for >40% of the patients with severe disease. Hemophilia A (HA) an X-linked bleeding disorder, is characterized by a wide allelic heterogeneity, as numerous mutations are spread out through the whole exonic, intronic and regulatory regions of the factor VIII gene.
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