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J Hered ; 85(6): 474-8, 1994.
Artículo en Inglés | MEDLINE | ID: mdl-7995928

RESUMEN

Ovine hemophilia A is an X-linked recessive bleeding disorder. For diagnostic purposes, restriction fragment length polymorphism (RFLP) analysis in the region of the factor VIII (F-VIII) gene was carried out using human F-VIII gene probes. The probe St14, known to detect a highly polymorphic region that is closely linked to the F-VIII gene in humans, hybridized nonspecifically with DNA from sheep. Searching for intragenic RFLPs, the entire 9.0-kb coding sequence of the human F-VIII was used as a probe. Using the 1.8-kb SstI/KpnI F-VIII cDNA probe for hybridization, an MspI-RFLP with allelic bands of 5.8 kb (A1) and 4.2 kb (A2) was detected. A1 was in linkage phase with the mutated allele responsible for hemophilia A. The F-VIII locus in the sheep genome was assigned to the long arm of the X-chromosome in the region Xq24-q33, using in situ hybridization with a 3-kb human F-VIII cDNA probe to QFQ banded sheep metaphase chromosomes.


Asunto(s)
Mapeo Cromosómico/veterinaria , Factor VIII/genética , Tamización de Portadores Genéticos , Hemofilia A/veterinaria , Enfermedades de las Ovejas/genética , Cromosoma X , Animales , Southern Blotting , Sondas de ADN , Femenino , Hemofilia A/diagnóstico , Hemofilia A/genética , Humanos , Hibridación in Situ , Masculino , Mutación , Linaje , Polimorfismo de Longitud del Fragmento de Restricción , Ovinos , Enfermedades de las Ovejas/diagnóstico
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