Relationship Between The Genotype And Clinical Pheotype In An Inherited Coagulation Factor Vii Deficiency Family

Objective To invetstigate the gene mutation in a inherited coagulation factor VII deficiency family.and study the relationship between the genotype and phenotypeMethod To identify the diagnosis in the family,we detected the coagulation function,coagulation factors activity and FVII:Ag level in all family members;all exons , exon-intron boundaries and promoter region of FVII gene were amplified by PCR from the family members'genomic DNA,the amplified products were purified by gel extraction method and analyzed by direct sequencing,and detected the gene mutation,if we find mutation,would repeated the PCR and purification course and did reverse sequencing to indentify the gene mutation,further analyzed the relationship between the genotype and phenotype.Result The proband and her two borthers'PT were 34.7 s,38.6s, 38.7s( normal value is 10-15s),APTT is normal; the FVII:C were 3.3%,3.9%,2.6%(normal value is 70~120%),other coagulation factors activity were all normal; the FVII:Ag level were 0.56mg/L,0.58 mg/L,0.61 mg/L (normal value is 0.7~1.0 mg/L),so we diagnose them FVII deficiency CRMR.After aligening all sequencing results,we find 11423Tâ†'G heterozygosis mutation in No.8 exon of FVII gene catalytic domain in the proband and her two borthers,resulting in FVII Cys329Gly. Conclusion Inherited coagulation factor VII deficiency is the rare hemorrhagic disease based on FVII gene deficiency,in this family the 11423Tâ†'G heterozygosis mutation resulting in FVII Cys329Gly caused the FVII catalytic domain spatial structure change,then affected FVII function and its stability,and the clinical phenotype is mild hemorrhage or asymptomatic...