Characterization of a large chromosomal deletion in the PROS1 gene of a patient with protein S deficiency type I using long PCR

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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 2 kb 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.

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