The Related Analysis Of Childrenhood Immune Thrombocytopenia And The FV10、VWF28、GP1BA Gene Mutation

Objective:To study the variation related to children immune thrombocytopenia (ITP), onset and progression of 10th exon of coagulation factor V 10 (FV10), platelet membrane glycoprotein (GP1BA) gene sequences of VWF gene exon (VWF28), in order to clear children ITP incidence of genetic mechanisms.Methods:We collected data all of 51 cases of clinical diagnosis as ITP for children, and 28 cases of non-ITP in children with peripheral blood genome-wide DNA extraction, genomic DNA as a template for PCR amplification of the FV10, VWF28, GP Ib gene, gelelectrophoresis, gene sequencing, based on NCBI and other database information to organize two sets of data were statistically analyzed.Results:(1) successfully amplified the experimental group and control group, all children FV10 gene; database FV gene and the amino acid sequence than the results show that the ITP group and control group, there are amino acids R513K mutation (94.1%,100%, P= 0.191), miscellaneouszygote was 87.5%, 78.6%(P= 0.303); two groups of amino acids are Q534R variation, and variation rate of 100%; did not find the FV amino acid 506 of FV Leiden mutation (nucleotide G1691A mutation\amino acids A506G variation); (2) successfully amplified more than 90% of samples VWF28 gene sequences found V1229I the V1229G heterozygous N1231T heterozygous G1253S heterozygous W1313R heterozygous T1381A variation (about 78%), D1472H heterozygous, the E1376G heterozygosity V1565L amino acidsvariation of nine kinds of amino acid variation.GCC --- of TTG DNA chain genetic characteristics, V1565L variation, whether homozygous or heterozygous state,100% will A1555A (GCC GAA) heterozygous base nonsense mutations chain; (3)the GP Ib gene sequences of the PCR amplification of difficult experimental data is still in perfect.The current data found that the T161M amino acid variation point, test samples there are large segments of missing phenomena. GP Ib gene repeat series; NCBI in April 2012 part of the database is updated, the amino acids in the total number from 639 to 652.Conclusion:(1)the FV10 genetic variation and children ITP was no significant correlation; FV amino acid the Q534R variation may be described in the Guangxi region population polymorphism, literature FV Leiden mutation at amino acid position may be incorrect, the FV Leiden mutation amino acid sites should FV516 amino acid position;(2)children ITP may associated with VWF28 genetic variation; part of the ITP performance in children as well as patients with hemophilia, or for platelet hemophilia; Guangxi region the crowd VWF28 gene polymorphism has a regional or ethnic-specific; Guangxi region population VWF28 gene linked inheritance of the GCC --- the TTG DNA; (3)The GPIB gene variation may be with children in particular,2-year-old children ITP incidence related; the GP Ib gene information exist a large number of repeat series data; (4)part of the children ITP occurred may be genetic variation; still can not determine the children’s ITP and FV10, VWF28, the GP1BA fullthe precise relationship.