What question did this study set out to answer?

To determine the molecular genetic defects responsible for hereditary thrombophilia in patients with inherited protein C deficiency.

May 1, 1987Proceedings of the National Academy of SciencesOpen Access

Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.

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Authors

GRG RomeoUniversity of Pisa HHH. J. HassanKing Saud University SSS Staempfli

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Implication

Genetic analysis reveals point mutations in patients with hereditary thrombophilia, indicating the molecular basis underlying inherited protein C deficiency.

Key Points

To determine the molecular genetic defects responsible for hereditary thrombophilia in patients with inherited protein C deficiency.
Analyzed the protein C gene structure in 29 unrelated patients with hereditary thrombophilia and protein C deficiency using Southern blot hybridization with cDNA probes.
Performed restriction fragment digestion with Pvu II and BamHI, evaluated family pedigrees, and cloned and sequenced the final exon of the protein C gene in probands showing altered restriction profiles.
Identified distinct point mutations in the terminal exon in two unrelated probands, which segregated fully with ~50% reductions in protein C antigen and activity across 3 and 7 heterozygous relatives, respectively.
Characterized a nonsense mutation converting codon 306 (Arg) to an in-frame stop codon that generated a Pvu II site, and a missense mutation abolishing a BamHI site that caused a Trp402Cys substitution in a conserved serine protease residue.

Cite This Study

Romeo et al. (1987) studied this question.

synapsesocial.com/papers/6a9bd25efc9a6d44aa6bee26 https://doi.org/10.1073/pnas.84.9.2829

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Implication

Genetic analysis reveals point mutations in patients with hereditary thrombophilia, indicating the molecular basis underlying inherited protein C deficiency.

Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.

Discussion

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Implication

Key Points

Cite This Study

Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.

Discussion

Member takes

Implication

Key Points

Cite This Study

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