[Detection of factor VIII intron 1 inversion in severe haemophilia A].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 26(3): 323-5, 2009 Jun.
Article
en Zh
| MEDLINE
| ID: mdl-19504449
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.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Factor VIII
/
Análisis Mutacional de ADN
/
Hemofilia A
/
Inversión Cromosómica
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
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Male
/
Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2009
Tipo del documento:
Article