A somatic mosaic for haemophilia A detected at the DNA level.
A partial gene deletion of about 1700 to 2000 bases spanning exon 3 and part of IVS-3 was identified in one patient with severe haemophilia A. Extensive DNA analysis of his family members revealed that the mother of the proband is a somatic mosaic for an abnormal factor VIII gene, because the defective gene could be identified in a considerable fraction of the leucocytes as well as of the cultured fibroblasts of the mother. This observation is important in estimating the recurrence risk in families of sporadic cases.
D002478:Cells, Cultured; D002872:Chromosome Deletion; D004247:DNA / Q000097:blood / Q000235:genetics*; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D005796:Genes; D006467:Hemophilia A / Q000097:blood / Q000235:genetics*; D006801:Humans; D007962:Leukocytes / Q000166:cytology; D008297:Male; D009030:Mosaicism; D010375:Pedigree
D005169:Factor VIII; D004247:DNA