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Utility of a (GT) n dinucleotide repeat in intron 1 of the factor 8 gene for haemophilia A carrier diagnosis
Author(s) -
Tizzano E.,
Venceslá A.,
Cornet M.,
Baena M.,
Baiget M.
Publication year - 2005
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/j.1365-2516.2005.01071.x
Subject(s) - intron , haemophilia , medicine , haemophilia a , gene , genetics , dinucleotide repeat , computational biology , genotype , biology , pediatrics , allele frequency
Summary. We report the usefulness of a dinucleotide GT repeat in intron 1 of the factor 8 gene in carrier diagnosis of haemophilia A (HA). We analyzed 47 women from HA families in which the mutation was not identified in the index case and in which the common intragenic polymorphic markers were uninformative. The intron 1 GT repeat was useful to identify the X chromosome with the mutation in 19 of them. The analysis of this easily detectable marker in conjunction with other current markers may facilitate X chromosome identification in a large proportion of HA families.