Carrier detection and prenatal diagnosis in haemophilia A and B.
Haematologica
; 75(5): 424-8, 1990.
Article
en En
| MEDLINE
| ID: mdl-1982946
Sixty probable carriers of haemophilia from 25 families were studied by using coagulation phenotype and DNA analysis: 33 with haemophilia A and 27 with haemophilia B. Coagulation phenotype was based on factor VIII/IX assay and DNA analysis on the examination of restriction fragment length polymorphisms (RFLPs) within and closely linked to factor VIII or IX: 3 RFLP for factor VIII and 3 for factor IX. The comparison between the coagulation phenotype and RFLP analysis showed the misclassification of 15 females (6 for haemophilia A and 9 for haemophilia B). Four prenatal haemophilia A diagnosis were made by DNA analysis of chorionic villi, taken with a transcervical trophoblastic biopsy, between the 18th and the 11th week.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Muestra de la Vellosidad Coriónica
/
Sondas de ADN
/
Enfermedades Fetales
/
Hemofilia A
/
Tamización de Portadores Genéticos
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
Haematologica
Año:
1990
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Italia