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Identification of a new CA dinucleotide repeat in the human factor VIII gene
Author(s) -
Lin ShuRung,
Lin ShuWha,
Hsu YaChu,
Shen MingChing
Publication year - 2000
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2000.02490.x
Subject(s) - exon , intron , haemophilia a , allele , microbiology and biotechnology , genetics , gene , genetic marker , haemophilia , biology
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.