Detection of factor VIII intron 1 inversion in severe haemophilia A / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 323-325, 2009.
Article
de Zh
| WPRIM
| ID: wpr-287398
Bibliothèque responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Diagnostic prénatal
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Facteur VIII
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Analyse de mutations d'ADN
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Introns
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Réaction de polymérisation en chaîne
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Diagnostic
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Génétique
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Hémophilie A
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Inversion chromosomique
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Méthodes
Type d'étude:
Diagnostic_studies
Limites du sujet:
Adult
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Female
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Humans
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Male
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Pregnancy
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2009
Type:
Article