AI Article Synopsis
- * Techniques like LD-PCR and multiple-PCR were used to identify these genetic changes, with additional methods for validation, revealing that 2.8% of the patients had intron 1 inversions.
- * The findings improved the diagnostic strategy for hemophilia A, allowing for better identification of carriers and more accurate prenatal testing for affected fetuses.
Article Abstract
Objective: Screening the intron 1 inversion of factor VIII (FVIII) in the population of severe haemophilia A(HA) in China and performing carrier detection and prenatal diagnosis.
Methods: Using LD-PCR to detect intron 22 inversions and multiple-PCR within two tubes to intron 1 inversions in severe HA patients. Carrier detection and prenatal diagnosis were performed in affected families. Linkage analysis and DNA sequencing were used to verify these tests.
Results: One hundred and eighteen patients were seven diagnosed as intron 22 inversions and 7 were intron 1 inversions out of 247 severe HA patients. The prevalence of the intron 1 inversion in Chinese severe haemophilia A patients was 2.8% (7/247). Six women from family A and 2 from family B were diagnosed as carriers. One fetus from family A was affected fetus.
Conclusion: Intron 1 inversion could be detected directly by multiple-PCR within two tubes. This method made the strategy more perfective in carrier and prenatal diagnosis of haemophilia A.
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| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2009.03.019 | DOI Listing |
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