[Inherited coagulation factor X deficiency caused by two novel mutations in factor X gene].
OBJECTIVE
To explore the molecular mechanisms involved in a pedigree with inherited coagulation factor X (FX) deficiency.


METHODS
The activated partial thromboplastin time (APTT), prothrombin time (PT), FX activity (FX:C) and FX antigen (FX:Ag) test were adopted for phenotype diagnosis. All the 8 exons, intron/exon boundaries and the 5'untranslated regions (UTR) of the FX gene were amplified by polymerase chain reaction (PCR) from the genomic DNA extracted from the peripheral blood of the propositus. The PCR products were screened by direct sequencing. The mutation was confirmed by allele specific PCR (ASPCR).


RESULTS
The phenotype of the propositus was identified as FX deficiency (type II). Two novel FX gene mutations were detected in the propositus: one was a donor site splice mutation in intron 1 (IVS1 + 1G-->A), another was a missense mutation 1185G-->A in exon 8 (Arg347His).


CONCLUSIONS
The FX deficiency of the propositus is caused by double heterozygous mutations IVS1 + 1G-->A and Arg347His.
Wang
Wen-bin
WB
Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Wang
Hong-li
HL
Wang
Xue-feng
XF
Fu
Qi-hua
QH
Zhou
Rong-fu
RF
Xie
Shuang
S
Hu
Yi-qun
YQ
Wang
Zhen-yi
ZY
D000941:Antigens / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005170:Factor X / Q000235:genetics*; D005171:Factor X Deficiency / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D055815:Young Adult
D000941:Antigens; C010515:factor X antigen; D005170:Factor X