AI Article Synopsis
- The study screened 101 patients for mutations in the factor VIII gene using denaturing gradient gel electrophoresis after amplifying specific DNA regions.
- Missense mutations were found in 86% of unrelated patients, with 41 mutations identified, 25 of which were newly described.
- Among the patients, 5 genotypes were linked to CRM+ and 26 to CRMred status, while one patient displayed two distinct mutations, and another developed an inhibitor related to a specific amino acid change.
Article Abstract
To screen for mutations within the factor VIII gene of 101 patients (85 unrelated), we used denaturing gradient gel electrophoresis (DGGE) after DNA amplification of target regions, including all coding regions except for the middle part (amino acid 757 to amino acid 1649) of the B domain. With this method, missense mutations were identified in 86% of unrelated patients. 41 different mutations were identified: 25 of them have not been described previously. Five of the genotypes are associated with CRM+ and 26 with CRMred status. Patients who are definitely related to each other showed no differences in DNA sequence. One patient showed two different base pair alterations, the first at amino acid 469 [ala(GCA-->gly(GGA)] and the second at position 473 [tyr(TAT)-->cys(TGT)]. One patient with an amino acid change at position 1689 [arg(CGC)-->his(CAC)] has developed an inhibitor against factor VIII.
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| http://dx.doi.org/10.1111/j.1365-2141.1995.tb05322.x | DOI Listing |
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