FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency / 中华血液学杂志
Chinese Journal of Hematology
; (12): 132-135, 2004.
Article
en Zh
| WPRIM
| ID: wpr-291433
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVES</b>To identify the FXI gene mutations in two Chinese pedigrees of congenital factor XI deficiency.</p><p><b>METHODS</b>The peripheral blood samples were collected from the probands and their family members and the plasma FXI:C and FXI:Ag were determined. All the exons and exon-intron boundries of FXI gene were amplified with PCR and sequenced thereafter.</p><p><b>RESULTS</b>A nonsense mutation Trp228stop and two missense mutations Glu323Lys and Leu172Pro were disclosed in the two pedigrees. All mutations existed in a heterozygous state.</p><p><b>CONCLUSION</b>The FXI gene mutations Trp228stop, Glu323Lys and Leu172Pro attribute to the pathogenesis of the congenital factor XI deficiency in Chinese. The Leu172Pro is identified for the first time.</p>
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Linaje
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Factor XI
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Datos de Secuencia Molecular
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Secuencia de Bases
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Pueblo Asiatico
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Deficiencia del Factor XI
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Genética
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Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Adult
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Child
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Hematology
Año:
2004
Tipo del documento:
Article