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[Recurrent deep vein thrombosis caused by heterozygous missense mutation of the protein S gene: genetic analysis of a case].
- Source :
-
Nan fang yi ke da xue xue bao = Journal of Southern Medical University [Nan Fang Yi Ke Da Xue Xue Bao] 2011 Jun; Vol. 31 (7), pp. 1228-31. - Publication Year :
- 2011
-
Abstract
- Objective: To analyze the molecular pathogenesis of protein S deficiency in an adolescent case of recurrent deep vein thrombosis (DVT).<br />Methods: Blood samples from the patient and his family members were collected for detection of the coagulation parameters by one-step clotting method, and the protein S (PS) and protein C activities were measured by a chromogenic assay. Enzyme-linked immunosorbent assay was employed for detecting the levels of free PS antigen. All the exons and exon-intron boundaries of the patients PS gene were amplified using PCR and analyzed by direct sequencing.<br />Results: As carriers of hereditary PS deficiency, both the patient and his father showed a heterozygous C82792T point mutation in the 10th exon of their PS gene which resulted in the substitution of arginine314 by cysteine in the polypeptide chain of PS protein.<br />Conclusion: Recurrence of DVT in this patient is the result of hereditary PS deficiency caused by a novel heterozygous missense mutation in the PS gene.
Details
- Language :
- Chinese
- ISSN :
- 1673-4254
- Volume :
- 31
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Nan fang yi ke da xue xue bao = Journal of Southern Medical University
- Publication Type :
- Academic Journal
- Accession number :
- 21764702