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. 1986 Jun 11;14(11):4535–4542. doi: 10.1093/nar/14.11.4535

A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A.

K L Wion, E G Tuddenham, R M Lawn
PMCID: PMC311463  PMID: 3012474

Abstract

A restriction fragment length polymorphism (RFLP) has been found in the gene for clotting factor VIII. Defects in this gene are the cause of hemophilia A. The DNA polymorphism affects an XbaI site in intron 22 of the gene. Two alleles occur in a frequency of 59 and 41 percent of the X chromosomes tested. Furthermore, about 25 percent of females who are homozygous for the previously reported BclI RFLP in the factor VIII gene are heterozygous for the XbaI polymorphism. This new RFLP thus represents a significant addition to available probes for the DNA-based prenatal diagnosis and carrier detection of this disease.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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