[在中国先天性因子XI缺乏症家系中鉴定出两种新型因子XI无义突变Trp228stop和Trp383stop]
[Identification of two novel factor XI non-sense mutation Trp228stop and Trp383stop in a Chinese pedigree of congenital factor XI deficiency].
作者信息
Wu Wen-man, Wang Hong-li, Wang Xue-feng, Chu Hai-yan, Fu Qi-hua, Ding Qiu-lan, Hu Yi-qun, Shen Zhi-xiang, Wang Zhen-yi
机构信息
Ruijin Hospital, Shanghai Second Medical University, Shanghai Institute of Hematology, Shanghai 200025, China.
出版信息
Zhonghua Xue Ye Xue Za Zhi. 2003 Mar;24(3):126-8.
OBJECTIVE
To identify the factor XI gene mutation in a Chinese pedigree of congenital factor XI deficiency.
METHODS
The peripheral blood samples were collected from the proband and her family members and the plasma FXI:C and FXI:Ag were assayed. All the exons and their adjacent intron sequences of factor XI were amplified with PCR and sequenced thereafter.
RESULTS
Two novel nonsense mutations TGG-->TGA (Trp228stop) and TGG-->TAG (Trp383stop) were identified in the family.
CONCLUSION
The compound heterozygous Trp228stop and Trp383stop may attribute to the pathogenesis of the congenital factor deficiency.
目的
鉴定一个先天性因子 XI 缺乏症中国家系中的因子 XI 基因突变。
方法
采集先证者及其家庭成员的外周血样本，检测血浆 FXI:C 和 FXI:Ag。采用聚合酶链反应（PCR）扩增因子 XI 的所有外显子及其相邻内含子序列，随后进行测序。
结果
在该家系中鉴定出两个新的无义突变 TGG→TGA（Trp228stop）和 TGG→TAG（Trp383stop）。
结论
复合杂合的 Trp228stop 和 Trp383stop 可能是先天性因子缺乏症发病机制的原因。
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