Detection of carrier status of hemophilia B using DNA markers.
Southeast Asian J Trop Med Public Health
;
1997 Sep; 28(3): 629-30
Artículo
en Inglés
| IMSEAR
| ID: sea-34494
ABSTRACT
Hemophilia B is an X-linked recessive disorder of the hemostasis involving a defective clotting factor IX. Amplification of the regions containing restriction fragment length polymorphisms (RFLP) can be achieved by the use of polymerase chain reaction (PCR). This paper describes the analysis of 2 RFLPs involving the Dde1 and Taq1 restriction sites within the factor IX gene in a family with hemophilia B. Digestion of the PCR products with Taq1 revealed a 163bp fragment in all the family members. This finding suggests the absence of restriction site for Taq1 enzyme. However, the Dde1 digest results in bands 369bp and 319bp segregated amongst the family members. The pattern of inheritance of the 369bp fragment in this family suggested that both the patient's mother and aunt are not carriers and that the patient's factor IX gene could have undergone a de novo mutation producing a defective factor IX gene responsible for the hemophilia B. This is supported by the fact that no family history of hemophilia B is indicated in the other male members within the family.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Linaje
/
Polimorfismo de Longitud del Fragmento de Restricción
/
Femenino
/
Humanos
/
Masculino
/
Factor IX
/
Marcadores Genéticos
/
Reacción en Cadena de la Polimerasa
/
Hemofilia B
/
Mutación Puntual
Tipo de estudio:
Estudio diagnóstico
Idioma:
Inglés
Revista:
Southeast Asian J Trop Med Public Health
Año:
1997
Tipo del documento:
Artículo
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