[Two new mutations of AT gene in type I inherited antithrombin deficiency.].
OBJECTIVE
To identify the clinical phenotype and gene mutation in two kindreds with type I inherited antithrombin (AT) deficiency.


METHODS
The coagulation and anticoagulation testing and thrombophilia screening were used for phenotypic diagnosis and immunonephelometry and chromogenic assay for plasma level of AT antigen (AT:Ag) and AT activity (AT:A), respectively. All of the seven exons and intron-exon boundaries and untranslation regions of AT gene were amplified by PCR, and the PCR products analysis was by direct sequencing. The corresponding gene sites of the two family members and healthy individuals were detected according to the gene mutation sites.


RESULTS
The plasma levels of AT:Ag of proband 1 and proband 2 were 126 mg/L and 117 mg/L, and AT:A was 49% and 48%, respectively. Heterozygotic deletion of 3239-3240delCT in proband 1 and nonsense mutation 3206A-->T (K70Stop) in proband 2 were rchaacterized in exon 2 of AT gene. And some of their family members were also detected with the heterozygotic gene mutation.


CONCLUSIONS
Type I inherited antithrombin deficiency of the two probands were caused by AT gene mutation 3239-3240delCT and 3206A-->T (K70Stop).
State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Ruijin Hospital of Shanghai Jiaotong University School of Medicine, Shanghai 200025, China.
Qiong
Q
Chen
Ye-Ling
YL
Lu
Guan-Qun
GQ
Xu
Qiu-Lan
QL
Ding
Xue-Feng
XF
Wang
Xiao-Dong
XD
Xi
Hong-Li
HL
Wang
D020152:Antithrombin III Deficiency / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype