Progress of research on protein composition and gene therapy of Fanconi anaemia - review / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 231-235, 2004.
Artículo
en Chino
| WPRIM
| ID: wpr-352091
ABSTRACT
Fanconi anaemia (FA) is an autosomal recessive inherited disorder caused by defects in hematopoietic stem cells. The clinical manifestations of FA are diverse and complicated. FA cells display high hypersensitivity to agents which produce interstrand DNA cross-links such as mitomycin C (MMC) or diepoxybutane (DEB). At least eight complementation groups with defects in eight genes (FANCA, FANCB, FANCC, FANCD(1), FANCD(2), FANCE, FANCF and FANCG) have been identified by gene analysis. Six genes (corresponding to subtypes A, C, D(2), E, F and G) have been coloned, and the encoded FA proteins interact in a common cellular pathway - "FA Pathway", through which modulate DNA repair. The progress of research on FA molecular mechanism provides gene therapy of FA with theory basis. FA cells transduced with the use of retrovirus carring the normal FA gene cDNA manifestate phenotypic correction of hypersensitivity to DNA cross-linking agents, such as MMC. In this review the clinical manifestations and gene composition of FA, and the functions of encoded FA proteins were summarized. The hematopoietic stem cell transplantation and gene therapy for FA patients were discussed.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Terapéutica
/
Proteínas Nucleares
/
Terapia Genética
/
Proteínas
/
Trasplante de Células Madre Hematopoyéticas
/
Proteínas de Ciclo Celular
/
Proteínas de Unión al ADN
/
Proteínas del Grupo de Complementación de la Anemia de Fanconi
/
Proteína del Grupo de Complementación C de la Anemia de Fanconi
/
Proteína del Grupo de Complementación D2 de la Anemia de Fanconi
Límite:
Humanos
Idioma:
Chino
Revista:
Journal of Experimental Hematology
Año:
2004
Tipo del documento:
Artículo
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