[Type I antithrombin deficiency due to 13389G deletion in antithrombin gene].
OBJECTIVE
To identify the gene mutation of a kindred with type I antithrombin deficiency.


METHODS
All of the seven exons and intron-exon boundaries of antithrombin gene were analysed by PCR and direct sequencing of amplified PCR products from the propositus.


RESULTS
A 13389G deletion in exon 6 was characterized in propositus, and this mutation led to frameshift.


CONCLUSIONS
This is a novel mutation, which can cause antithrombin deficiency and thrombosis.
Fu
Qihua
Q
Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Xu
Xianguo
X
Ding
Qiulan
Q
Hu
Yiqun
Y
Wang
Xuefeng
X
Wang
Hongli
H
D000293:Adolescent; D000991:Antithrombins / Q000172:deficiency* / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion
D000991:Antithrombins; D004247:DNA