[Recurrent deep vein thrombosis caused by heterozygous missense mutation of the protein S gene: genetic analysis of a case].
Nan Fang Yi Ke Da Xue Xue Bao
; 31(7): 1228-31, 2011 Jun.
Article
en Zh
| MEDLINE
| ID: mdl-21764702
ABSTRACT
OBJECTIVE:
To analyze the molecular pathogenesis of protein S deficiency in an adolescent case of recurrent deep vein thrombosis (DVT).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.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.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.
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Banco de datos:
MEDLINE
Asunto principal:
Proteína S
/
Deficiencia de Proteína S
/
Trombosis de la Vena
/
Mutación Missense
Límite:
Adolescent
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Nan Fang Yi Ke Da Xue Xue Bao
Año:
2011
Tipo del documento:
Article
País de afiliación:
China