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[Type I antithrombin deficiency due to 13389G deletion in antithrombin gene]
Qihua Fu1, Xianguo Xu, Qiulan Ding
1Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
|December 17, 2002
Abstract
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.
Conclusion:
This is a novel mutation, which can cause antithrombin deficiency and thrombosis.