[Report of a case of congenital plasminogen activator inhibitor-1 deficiency].
OBJECTIVE
To report a patient with congenital plasminogen activator inhibitor-1 (PAI-1) deficiency and explore its molecular mechanism.


METHODS
The activities of tissue plasminogen activator (tPA), alpha(2) antiplasmin (alpha(2)AP) and PAI-1 were measured by the methods of chromogenic substrate, the antigens of tPA and PAI-1 were measured by ELISA. PAI-1 gene was studied by PCR product sequencing and restriction endonuclease ana-lysing.


RESULTS
In the present patient, the euglobulin clot lysis time was 70 minutes and was corrected to normal range after added 50 ng/ml PAI-1 to his plasma. The activities of t-PA, alpha(2)AP, and factor were normal; the activity and antigen of PAI-1 in plasma were both significantly decreased. Nucleotide sequence analysis revealed that the patient had a heterozygous missense mutation in exon 2, a G to A transition at nucleotide 43. The possibility of gene polymorphism was excluded by restriction endonuclease analysing.


CONCLUSIONS
It is the first patient with congenital PAI-1 deficiency reported in China. The PAI-1 deficiency in the patient may be caused by compound heterozygosity, one of which is the G to A transition at nt43, a new mutation in congenital PAI-1 deficiency.
Zhang
Zi-Yan
ZY
Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
Wang
Zhao-Yue
ZY
Fu
Jian-Xin
JX
Dong
Ning-Zheng
NZ
Zhang
Wei
W
Bai
Xia
X
Ruan
Chang-Geng
CG
D000328:Adult; D001483:Base Sequence; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017395:Plasminogen Activator Inhibitor 1 / Q000097:blood / Q000172:deficiency* / Q000235:genetics*
D017395:Plasminogen Activator Inhibitor 1