Summary
Carriers of haemophilia A were detected in 20 Japanese families with using the factor VIII gene probe (F8A) and the gene-linked ST 14-1 probe. Polymorphism by the use of theBclI and F8A probe detected the smaller allele (0.9 kb) in 86% and the larger allele (1.2 kb) in 14% of the 65 normal X chromosomes. The frequency ofBclI polymorphism was 30% in 30 normal fameles. In six out of 20 haemophilia A families, the haemophilia gene was identified byBclI allele polymorphism. The use ofTaqI and the ST 14-1 probe detected 11 carriers in 20 haemophilia A families. In 14 families (70%), either theBclI polymorphism in the factor VIII locus orTaqI polymorphisms in the ST 14 locus was useful for carrier detection.
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Nishino, M., Nishimura, T., Naka, H. et al. Carrier detection in Japanese haemophilia a families using factor VIII gene probe (F8A) and the gene-linked ST 14-1 probe. Jap J Human Genet 32, 237–245 (1987). https://doi.org/10.1007/BF01876878
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DOI: https://doi.org/10.1007/BF01876878
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