The identification of R152Q and IVS6+1G→T double heterozygous mutation in a Chinese family with inherited F VII deficiency

Objective To identify the gene mutations of an inherited coagulation factor Ⅶ deficiency pedigree.Methods PCR and DNA sequencing were used to identify the FⅦ gene mutations in the proband.The identified mutations were validated by PCR followed by restriction fragment length polymorphism technique or DNA sequencing.100 healthy volunteers were chosen randomly as controls. Results R1S2Q and IVS6+1G→T double heterozygous mutations were discovered in the Droband.The pedigree analysis showed that R152Q missense mutation inherited from his father,and IVS6+1G→Twas from his mother. The R1S2Q missense mutation in exon 6 was not found in 100 healthy volunteers. Conclusion The congenital deficiency of F Ⅶ in the proband might be caused by the coinheritance of the R152Q missense mutation in exon 6 and the splicing donor site mutation ( ⅣS6+1G→T)in intron 6. Key words: Factor Ⅶ deficiency; Factor Ⅶ; Pedigree; Mutation; Polymerase chain reaction