title: Characterization of a large chromosomal deletion in the PROS1 gene of a patient with protein S deficiency type I using long PCR.
abstract: A long-PCR-based technique was developed to investigate a possible deletion in the protein S gene, PROS1, in a family with type I protein S (PS) deficiency (pedigree PS62). Long-PCR across introns produced an unexpected 2kb PCR product between exon VII and XII not seen in control individuals, in addition to the expected 2.5 kb exon VII-VIII product. This result suggested that a deletion had occurred between exons VII and XII in the PS-deficient family members. All were heterozygous for the deletion, Sequencing of the cloned 2 kb fragment gave the precise location of the breakpoints within introns 7 and 11. Significant similarity existed in both introns to repetitive sequences, e.g. Alu and Mer12, but no significant similarity was evident between the two introns themselves. The technique of long-PCR is simple and more informative than Southern blotting in detecting and characterizing large intragenic deletions.
authors.affiliation: Haemostasis and Thrombosis Research Centre, Department of Haematology, Leiden University Hospital, The Netherlands.
authors.forename: Z R
authors.initials: ZR
authors.lastname: Holmes
authors.forename: R M
authors.initials: RM
authors.lastname: Bertina
authors.forename: P H
authors.initials: PH
authors.lastname: Reitsma
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D002874:Chromosome Mapping / Q000379:methods; D005091:Exons / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D017293:Protein S / Q000235:genetics*; D018455:Protein S Deficiency / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D017293:Protein S