Fibrinogen beta chain gene mutation contributes to one congenital afibrinogenemia / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 137-139, 2005.
Artículo
en Chino
| WPRIM
| ID: wpr-229883
ABSTRACT
<p><b>OBJECTIVE</b>To identify the fibrinogen (Fg) gene mutations in a Chinese pedigree of congenital afibrinogenemia.</p><p><b>METHODS</b>The plasma Fg activity and protein of the proband and his family members were detected. Genomic DNA was isolated from the peripheral blood mononuclear cells. All the exons and exon-intron boundaries of fibrinogen gene were amplified by PCR and sequenced thereafter.</p><p><b>RESULTS</b>Two mutations, 7972 del G in FGB and T2543A in FGG, were found in the proband.</p><p><b>CONCLUSIONS</b>FGG2543 is a polymorphism site, which lead to the polymorphism of gamma144 I/K. The G deletion at base 7972 of FGB contributes to the frameshift mutation after amino acid 419, resulting in the truncated beta chain without the terminal 27 amino acids. The latter may contributes to the pathogenetic mechanisms in Chinese congenital afibrinogenemia patients. The G deletion at base 7972 of FGB is identified for the first time.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Fibrinógeno
/
Análisis Mutacional de ADN
/
Secuencia de Bases
/
Intrones
/
Western Blotting
/
Reacción en Cadena de la Polimerasa
/
Exones
/
Afibrinogenemia
/
Genética
Tipo de estudio:
Estudio pronóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Hematology
Año:
2005
Tipo del documento:
Artículo
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