[Gene analysis of five inherited factor V deficiency cases].
OBJECTIVE
To identify gene mutations involved in five cases of inherited factor V (FV) deficiency.


METHODS
Activity of FV was determined by one-stage clotting assay using FV-deficiency plasma, and FV antigen by an ELISA assay. All the exons and exon-intron boundaries of FV gene were amplified by PCR and then DNA sequencing. Restriction enzyme analysis was used to analyze the probands, their family members and healthy volunteers.


RESULTS
Both activity and antigen of FV in the 5 patients were extremely lower compared with that of normal mixed plasma. Six mutations were identified in these 5 patients, G69969T (G2079V), C45533T (R712Ter), C46796T (R1133Ter), G45366A (C656Y), C46253T (R952C) and G16088C (D68H), the latter three were novel mutations reported for the first time and the C46253T (R952C) was the first missense mutation reported in B domain. The result of sequencing or restriction enzyme analysis showed that the three novel missense mutations were not caused by single nucleotide polymorphisms.


CONCLUSIONS
Gene mutations in 5 type I inherited FV deficiency of patients including 2 nonsense mutations and 4 missense mutations identified which led to the instability of FV protein and the reducing of FV: Ag in the plasma.
Cao
Li-Juan
LJ
The First Affiliated Hospital, Soochow University, Jiangsu Institute of Hematology, Suzhou 215006, China.
Wang
Zhao-Yue
ZY
Su
Yan-Hua
YH
Yang
Hai-Yan
HY
Zhao
Xiao-Juan
XJ
Zhang
Wei
W
Yu
Zi-Qiang
ZQ
Bai
Xia
X
Ruan
Chang-Geng
CG
D000293:Adolescent; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005165:Factor V / Q000235:genetics* / Q000378:metabolism; D005166:Factor V Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
D005165:Factor V