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. 1985 Dec;76(6):2161–2164. doi: 10.1172/JCI112222

An intragenic deletion of the factor IX gene in a family with hemophilia B.

S H Chen, S Yoshitake, P F Chance, G L Bray, A R Thompson, C R Scott, K Kurachi
PMCID: PMC424334  PMID: 3001143

Abstract

A family of seven patients severely afflicted with hemophilia B has been studied for their factor IX genes through the use of factor IX cDNA and genomic DNA probes. The patients had detectable (less than 10% of normal) factor IX antigen in urine and no detectable inhibitors in sera to factor IX protein. Based on the DNA hybridization analysis, these patients showed a partial intragenic deletion in their factor IX gene. The deletion included two exons (exons V and VI) coding for the amino acid sequence from number 85 to 195 of the factor IX protein. The deleted portion of the gene contained the entire factor IX activation peptide. The length of the deletion was estimated to be 10 +/- 0.3 kilobase pairs. This specific gene has been named FIXSeattle. In this family both the deletion and a Taq 1 restriction fragment length polymorphism can be used as a useful marker for accurate detection of female carriers of the deficient factor IX gene.

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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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