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- Title
Identification of a new CA dinucleotide repeat in the human factor VIII gene.
- Authors
Lin, Shu-Rung; Lin, Shu-Wha; Hsu, Ya-Chu; Shen, Ming-Ching
- Abstract
We describe the identification of a new CA dinucleotide repeat marker for the diagnosis of haemophilia A carriers. The marker (CA-6) is present in intron 6 as a single copy 5 kb upstream of exon 7. Of 195 and 118 X chromosomes from normal individuals and haemophilia A patients, respectively, we observed three alleles of CA-6 with 12–14 repetitions [(CA)12-14]. The frequencies were 0·5% and 0% for (CA)12, 99% and 95·8% for (CA)13, and 0·5% and 4·2% for (CA)14 in normals and patients respectively. We conclude that the low polymorphism of the CA-6 marker renders it less useful for the diagnosis of Chinese haemophilia A carriers.
- Subjects
BIOMARKERS; HEMOPHILIA; DIAGNOSIS
- Publication
British Journal of Haematology, 2000, Vol 111, Issue 4, p1256
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1046/j.1365-2141.2000.02490.x