Type I antithrombin deficiency due to 13389G deletion in antithrombin gene.
- Author:
Qihua FU
1
;
Xianguo XU
;
Qiulan DING
;
Yiqun HU
;
Xuefeng WANG
;
Hongli WANG
Author Information
- Publication Type:Case Reports
- MeSH: Adolescent; Antithrombins; deficiency; genetics; Base Sequence; DNA; chemistry; genetics; DNA Mutational Analysis; Family Health; Frameshift Mutation; Humans; Male; Pedigree; Sequence Deletion
- From: Chinese Journal of Hematology 2002;23(11):588-590
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the gene mutation of a kindred with type I antithrombin deficiency.
METHODSAll 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.
RESULTSA 13389G deletion in exon 6 was characterized in propositus, and this mutation led to frameshift.
CONCLUSIONThis is a novel mutation, which can cause antithrombin deficiency and thrombosis.
