[Genetic analysis of hereditary factor VII deficiency from a Chinese pedigree].
OBJECTIVE
To identify the mutation in coagulation factor VII gene from a Chinese patient with hereditary coagulation factor VII deficiency.


METHODS
The genomic DNA fragments of FVII gene from a propositus and normal subjects were amplified using polymerase chain reaction (PCR), and analyzed with direct sequencing of PCR products. The PCR amplified genomic DNA fragments of FVII gene from the propositus and her family members were analyzed using restriction enzyme Hgic I.


RESULTS
The FVII gene sequences of normal subjects were identical to the data published, while a missense mutation (TGT-->GGT) was found at codon 329 in FVII gene of the propositus. The heterozygous condition for the mutation was revealed in her three family members.


CONCLUSIONS
We have found a novel mutation (TGT-->GGT) at codon 329 in FVII gene of a patient with hereditary FVII deficiency, which leads to a cystein residue replaced by a glysine. PCR combined with restriction enzyme Hgic I digestion would be a rapid diagnostic method for this mutation.
Research Laboratories, PLA Center for Laboratory Medicine, Fuzhou General Hospital, Fuzhou 350025, China.
Y
Y
Wu
W
W
Yang
G
G
Fang
D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
D005167:Factor VII