title: Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism.
abstract: 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.
authors.affiliation: Molecular Genetics Section, Thrombosis Research Institute, Chelsea, London, UK.
authors.forename: K
authors.initials: K
authors.lastname: Wieland
authors.forename: D S
authors.initials: DS
authors.lastname: Millar
authors.forename: C B
authors.initials: CB
authors.lastname: Grundy
authors.forename: R S
authors.initials: RS
authors.lastname: Mibashan
authors.forename: V V
authors.initials: VV
authors.lastname: Kakkar
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002872:Chromosome Deletion; D005091:Exons; D005170:Factor X / Q000235:genetics*; D005171:Factor X Deficiency / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009030:Mosaicism; D015345:Oligonucleotide Probes; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping
chemical_list: D015345:Oligonucleotide Probes; D005170:Factor X