[Studies on inherited coagulation factor VII deficiency and tissue factor abnormality in a pedigree].
OBJECTIVE
To investigate the mechanism of clinical haemorrhage in an inherited coagulation factor VII (FVII) deficiency and tissue factor abnormality pedigree.


METHODS
All exons, exon-intron boundaries and the 3', 5' untranslated sequences of FVII and tissue factor (TF) genes were amplified by PCR and sequenced directly. Any mutation identified by direct sequencing was confirmed by reverse sequencing. FVII cDNA of the proband was synthesized with random primers and amplified by nest PCR.


RESULTS
55C-->T heterozygous mutation located in promoter of FVII gene was identified in the proband. The heterozygous mutation was derived from his mother. Tracing the other pedigree members found that his sister had the same heterozygous mutation and the others had wild-type FVII genes. A 9363 C-->T (Arg131Trp) heterozygous polymorphism in TF gene, which was 2.63% frequency of T allele polymorphism, was found in all of the pedigree members.


CONCLUSIONS
It was the first report that the -55C-->T heterozygous mutation in FVII gene and the Arg131Trp heterozygous polymorphism in TF gene explained the clinical symptom of the proband.
Ding
Qiu-lan
QL
Department of Clinical Transfusion, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Wang
Xue-feng
XF
Xu
Guan-qun
GQ
Huang
Xia-ping
XP
Hu
Yi-qun
YQ
Wu
Wen-man
WM
Fu
Qi-hua
QH
Wang
Hong-li
HL
Wang
Zhen-yi
ZY
D000328:Adult; D004252:DNA Mutational Analysis; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D013925:Thromboplastin / Q000235:genetics*
D005167:Factor VII; D013925:Thromboplastin