Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism |
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Authors: | Kerstin Wieland David S Millar Catherine B Grundy Reuben S Mibashan Vijay V Kakkar David N Cooper |
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Institution: | (1) Molecular Genetics Section, Thrombosis Research Institute, Manresa Road, SW3 6LR London, Chelsea, UK;(2) Haematology Department, King's College Hospital, London, UK |
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Abstract: | Summary A case of homozygous factor X deficiency arising from the inheritance of two non-identical gene deletions from heterozygous parents is described. One, a partial gene deletion, was localized to exons VII and VIII by a combination of Southern blotting and polymerase chain reaction (PCR) amplification of exon sequences. The other deletion, of maternal origin, probably involves the entire factor X gene. Restriction fragments associated with the exon VII + VIII deletion were present in three siblings including the homozygous proband. These fragments were however absent from the somatic cells of the father, a finding consistent with germline mosaicism. |
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