The Genetic Analysis Of Thrombosis Associated Whit Anticoagulant Protein Deficien In Three Chinese Families

Objective To explore the clinical phenotype and genotype in three Chinese families affected with anticoagulant protein deficiency and thrombosis.Methods Plasma levels of Protein C activity(PC:A)and Protein S activity(PS:A)were detected with luminescent substrate.Protein C and Protein S genes were detected with polymerase chain reaction(PCR)and direct sequencing.Results A 565C>T mutation of Protein C gene was found in three family including the proband(III-10)and other three family members(II-5、II-6、III-9)in family 1,the proband(II-3)and other 3 family members(I-1、I-2、III-1)in family 2 and the proband(II-1)and one family members(I-1)in family 3.Two mutation((C-A)+520 to termination and c.2001A>G)of Protein S gene were found in the proband(III-10)and other six family members(II-5、II-7、II-9、II-10、III-9、III-15)In family 1.Conclusion A mutation(c.565C>T)of PROC gene and two mutation((C-A)+520 to termination and c.2001A>G)of PROS1 gene found in this study may significantly increase the risk of phlebothrombosis.