Abstract
Hemophilia A is an X-linked disorder caused by absent or dysfunctional factor VIII:C. Because of therapy-induced complications: hepatitis, inhibitor formation, and infection with Human Immunodeficiency Virus, CS determination is often requested. CS by, analysis of factor VIII:C levels and pedigree-derived probabilities has limited utility and significant risk for error. We evaluated the utility of 3 intragenic restriction fragment length polymorphisms (RFLPs) (Intron 18, 22 and 25) and the closely-linked extragenie RFLP (ST14) to provide CS through genotype assignment. Using standard Southern blots we found that 38/93 (41%), 25/43 (58%), 14/44 (32%) and 103/106 (97%) of female relatives were heterozygous for the Intron 18, 22, 25 and ST14 RFLPs. Utility of Intron 18 and 25 in combination was limited by strong linkage disequilibrium (27/27 females homozygous for Intron 18 were also homozygous for Intron 25). In contrast of 38 females homozygous for the Intron 18 RFLP 20/38 (53%) were heterozygous for Intron 22. Our data indicate that analysis of the Intron 18 and 22 RFLPs could provide highly accurate information for 68% of females at risk for being carriers and the closely-linked ST14 RFLPs would be informative for the remaining 32%.
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Janco, R., Phillips, J., Orlando, P. et al. APPLICATION OF DNA ANALYSIS TO DETERMINE CARRIER STATUS (CS) OF HEMOPHILIA. Pediatr Res 21 (Suppl 4), 300 (1987). https://doi.org/10.1203/00006450-198704010-00795
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DOI: https://doi.org/10.1203/00006450-198704010-00795
