[Inherited coagulation factor VII deficiency caused by double heterozygotic mutations Arg304Gln and Arg304Trp].
OBJECTIVE
To investigate the genotypes of mutations of an inherited coagulation factor VII(F VII) deficiency pedigree.


METHODS
The diagnosis was validated by coagulant parameters. F VII gene mutations were analysed in the proband and her family members by DNA direct sequencing. The PCR fragments were cleaved by the Msp I restriction enzyme to confirm the mutations detected by sequencing was performed in this study.


RESULTS
Double heterozygous mutations at the same coding site of amino acid were detected in propositus of the pedigree: a C to T mutation at position 11348 resulting in Arg304Trp substitution combined with a G to A mutation at position 11349 resulting in Arg304Gln substitution. Her farther had a G to A mutation at position 11349 and her mother had a C to T mutation at position 11348, respectively. Both were heterozygous mutations. One of her brothers had normal genotype, the other brother and all her three offsprings had heterozygous mutations.


CONCLUSIONS
Double heterozygous mutations coding the same amino acid were found in a pedigree with hereditary coagulation factor VII deficiency.
Ding
Qiu-lan
QL
Shanghai Institute of Haematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai, 200025 PR China. qiulan_ding@hotmail.com
Wang
Hong-li
HL
Wang
Xue-feng
XF
Wang
Ming-shan
MS
Fu
Qi-hua
QH
Wu
Wen-man
WM
Hu
Yi-qun
YQ
Wang
Zhen-yi
ZY
D004252:DNA Mutational Analysis; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
D005167:Factor VII