VWF,FV,GP1Bα Gene Study Of Unknown Reason Heamorrhage Disease In Children

Objective:The aim of the stuty was to investigate the mutations of vWF exons 28,FV exons 10and GPⅠba in the patients with the heredit- ary hemorrhagic disease of unclear reason and with no well ITP treatment result but with better anticoagulang treatment result. To understand the epidemiology in children bleeding disorders and thrombosis provide the genetic evidences for the disease.Methods:(1) 31 cases of bleeding with unclear reason and with no well ITP treatment result but with better anticoagulang treatment result were collected from March 2008 to October 2010 in our hospital outpaient and inpatient pediatric. (2) A total of 31 patients were examined using prothrombin time, thrombin time,activated partial thromboplastin time and plasma factorⅧ,Ⅸ,ⅪandⅫprocoagulant activity to except the common genetic disease that caused by coagulation factors deficiency. (3)Genomie DNA was extraeted with blood genomic DNA extraction Kit .(4)The mutations of VWF28,FV10 and GP1bαgene were determined by polymerase chain reaction (PCR) and DNA sequencing in 31 patiens. Results: A total of 31 Patients with the VWF28,FV10 and GP1bαgenes were successfully amplified, and one case of V1229I 1 mutations, V1565L(67.74%), T1381A10(32.25%), D1472H8(25.81%) were detected in exon vWF28,the last three genes mutations were polymorphic by SNP database; R513 K22(70.97%) were detected in exon FV10;one case of T119S1 mutation- s,L561I17(54.84%) were detected in exon GP1bα; However, R513K,T119S,L561I mutations were found in the present study were polymerphic.Conclusion:(1)V1229I mutation in vWF28 exon may be a novel missense. some patients may not be ruled out the existence of VWF gene mutation in some patients with unknown causes of clinical bleeding.(2)The mutation of FV 10, GP1bαgene may not be common risk factors in the hemorrhagic disease with unclear reason.(3) The polymorphic sites of T1381A,V1565L,D1472H in vWF 28 exon; polymorphism site of R513K in FV10 exon and polymorphism site of A332D,L561I in GP1bαgene were common genotype in Guangxi region. The clinical bleeding phenotype needs further studying. (4)The polymorphism site of T119S in GP1bαgene was a rare genotype. T119S mutation are likely to increase platelet adhesion, wich will be confirmed by expansion of cases.