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pubmed-article:15810916pubmed:abstractTextWe 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.lld:pubmed
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pubmed-article:15810916pubmed:pagination142-4lld:pubmed
pubmed-article:15810916pubmed:dateRevised2009-10-21lld:pubmed
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pubmed-article:15810916pubmed:year2005lld:pubmed
pubmed-article:15810916pubmed:articleTitleUtility of a (GT) dinucleotide repeat in intron 1 of the factor 8 gene for haemophilia A carrier diagnosis.lld:pubmed
pubmed-article:15810916pubmed:affiliationDepartment of Genetics, Hospital of Sant Pau, Barcelona, Spain. etizzano@hsp.santpau.eslld:pubmed
pubmed-article:15810916pubmed:publicationTypeJournal Articlelld:pubmed