Identification of a new CA dinucleotide repeat in the human factor VIII gene

S R Lin; S W Lin; Y C Hsu; M C Shen

doi:10.1046/j.1365-2141.2000.02490.x

Identification of a new CA dinucleotide repeat in the human factor VIII gene

Br J Haematol. 2000 Dec;111(4):1256-9. doi: 10.1046/j.1365-2141.2000.02490.x.

Authors

S R Lin¹, S W Lin, Y C Hsu, M C Shen

Affiliation

¹ Institute of Molecular Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.

PMID: 11167772
DOI: 10.1046/j.1365-2141.2000.02490.x

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Blotting, Southern
Case-Control Studies
China
Dinucleotide Repeats*
Factor VIII / genetics*
Female
Genetic Carrier Screening
Genetic Markers
Hemophilia A / genetics*
Humans
Male
Polymerase Chain Reaction

Substances

Genetic Markers
Factor VIII