The Research Of Clinical And Genetic In Chinese Genetic Thrombophilia Pedigree

Objective:Screening test of Inherited Thrombophilia was performed to determine its clinical classification in Chinese Han population family,and the detection of Factor V(FV) mutation was carried out in order to exploring the Resistance of activated protein C(APCR) genetic characteristics in Han population.Methods:14 Inherited Thrombophilia Pedigree patients` clinic information were collected.A preliminary diagnosis was made by related biochemical screening,conventional Polymerase chain reaction(PCR), Restriction Fragment Length Polymorphism(RFLP) analysis and deoxyribonudeic acid(DNA) sequencing were used in APCR positive patients.100 Hearth people as the control group,Examine the Leiden (G1691A) and FV rs6020A-G mutation in Inherited Thrombophilia related gene FV.Results:The clinical manifestation of proband and other patients meets the diagnostic criteria of Inherited activated protein C-resistant, and showed a autosomal dominant inheritance.The laboratory screening index of Thrombophilia such as PT,FIB,protein C(PC),AT,LA,ACA, Hcy,proteinS(PS),Thrombomodulin(TM) are normal partial thromboplas tin time(APTT) is shorted and Resistance of activated protein C (APC-R) is lower,Consistent with hereditary APC-R diagnostic criteria. Examine 14 APCR positive family members and 100 health control by RFLP analysis and DNA sequencing,our study shows no FV Leiden mutation was found in the related gene of Thrombophilia(FV) 10th exon. But,FV rs6020A-G homozygous mutation was found.The results suggest that in the Chinese Han population may exist APCR associated with the new FV gene mutation.Conclusions:FV Leiden mutation was excluded in APCR family, suggesting the existence of APCR genetic heterogeneity,FV rs6020A-G homozygous mutation was found and suggests that in the Chinese Han population may exist APCR associated with the new FV gene mutation.