Detection of intron 22 inversion of factor VIII gene in severe hemophilia A patients / 中华血液学杂志
Chinese Journal of Hematology
; (12): 918-921, 2013.
Article
de Zh
| WPRIM
| ID: wpr-272084
Bibliothèque responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the incidence of intron 22 inversion (INV22) of factor VIII (FVIII) gene in severe hemophilia A (HA) patients, clarify its pathological mechanism, and identify INV22 carrier in the female family members.</p><p><b>METHODS</b>One-stage method was used to assay the FVIII activity (FVIII:C)in 126 severe HA patients with a median age of 14 years old (range: 4 months-63 years). INV22 was analyzed by long-distance polymerase chain reaction (LD-PCR) and pulsed field gel electrophoresis (PFGE), and pedigree were conducted in 3 involved HA families.</p><p><b>RESULTS</b>Of all the 126 severe HA, 52 (41.3%) cases had the INV22. Four females including 3 mothers and 1 sister of probands were diagnosed as INV22 carriers among 11 suspected carrier mosaicisms from 3 INV22 positive HA families. In 8 females from one family without HA history, the patient's mother was a INV22 carrier, but her maternal grandmother, 2 maternal aunts, 2 female siblings and 1 elder female cousin were negative.</p><p><b>CONCLUSION</b>LD-PCR and PFGE could be used to diagnose severe HA patients with INV22 and identify the carriers.</p>
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Pedigree
/
Facteur VIII
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Introns
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Chromosomes X humains
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Génétique
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Hémophilie A
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Hétérozygote
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Inversion chromosomique
Type d'étude:
Diagnostic_studies
/
Prognostic_studies
Limites du sujet:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
langue:
Zh
Texte intégral:
Chinese Journal of Hematology
Année:
2013
Type:
Article