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Previous Volume 312:682-686 March 14, 1985 Number 11 Next

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Abstract

We have developed a new method of screening for hemophilia A in families at risk for the disease. A DNA probe (St14) that detects a very polymorphic region on the human X chromosome has been shown to be closely linked to hemophilia A. We observed no recombination between the St14 locus and hemophilia A in 12 families studied. The odds in favor of linkage are 4.4 X 10(9) to 1 (lod score, 9.65). The 95 per cent confidence interval for the probability of a recombination between St14 and hemophilia A is 0 to 6.5 per cent. This DNA probe, which is informative in more than 90 per cent of families at risk of hemophilia A, can be used in conjunction with classic biologic assays to identify carriers with an accuracy of 96 per cent or more. If a small risk of misclassification due to crossover between the test and the disease loci is accepted, this DNA marker should allow first-trimester prenatal diagnosis of hemophilia A. Segregation analysis with St14 may thus represent a major improvement in genetic counseling for hemophilia A.

This article has been cited by other articles:

• Favier, R., Lavergne, J.-M., Costa, J.-M., Caron, C., Mazurier, C., Viemont, M., Delpech, M., Valleix, S. (2000). Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female. Blood 96: 4373-4375 [Abstract] [Full Text]  
• Yamazaki, E., Mohri, H., Harano, H., Kanamori, H., Inaba, H., Okubo, T. (1998). Genetic Counseling by Analysis of Intron 22 Inversions of the Factor VIII Gene. CLIN APPL THROMB HEMOST 4: 111-113 [Abstract]  
• Caskey, C. (1987). Disease diagnosis by recombinant DNA methods. Science 236: 1223-1229 [Abstract]  
• Mandel, J.L., Arveiler, B., Camerino, G., Hanauer, A., Heilig, R., Koenig, M., Oberle, I. (1986). Genetic Mapping of the Human X Chromosome: Linkage Analysis of the q26-q28 Region That Includes the Fragile X Locus and Isolation of Expressed Sequences. Cold Spring Harb Symp Quant Biol 51: 195-203 [Abstract]