[1例由FGA基因第2外显子Arg16His突变引起的先天性异常纤维蛋白原血症的基因分析]
[Genetic Analysis of A Case of Congenital Dysfibrinogenemia Caused by Arg16His Mutation in Exon 2 of FGA].
作者信息
Zhang Yong-Lu, Liu Shu-Yuan, Zhang Zhang-Lin, Tao Xiao-Yan, Peng Xiao-Xiao, Kong Yun-Yuan
机构信息
Department of Laboratoria Examination, The First Affiliated Hospitul of Nanchang University, Nanchang 330006, Jiangxi Province, China.
Department of Laboratoria Examination, The First Affiliated Hospitul of Nanchang University, Nanchang 330006, Jiangxi Province, China. E-mail:
出版信息
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2017 Oct;25(5):1514-1517. doi: 10.7534/j.issn.1009-2137.2017.05.041.
OBJECTIVE
To analyze the phenotype and genotype of a family with congenital dysfibrinogenemia.
METHODS
Assays of coagulation, including activated partial thromboplastin time(APTT), pro-thrombin time(PT)and thrombin time(TT) were carried out with Sysmex CA-7000 in the proband and his family members. The quality and quantity of fibrinogen in plasma were determined by Clauss and electrophoresis, respectively. Fibrinogen and inconstituent were analyzed by Native-PAGE. All exon and exon intron boundaries of fibringen genes were analyzed by direct sequencing.
RESULTS
The proband had normal APTT, but prolonged PT and TT. The activity of fibrinogen in plasma was decreased while its quantity was normal. These abnormalities were also found in his sisters and daughter, while his wife was normal. Genetic analysis revealed heterozygous G1233A in the exon 2 of FGA which resulted in Arg16His missense mutation.
CONCLUSION
Inherited dysfibrinogenemia is caused by Arg16His mutation in exon 2 of FGA.
目的
分析一个先天性纤维蛋白原异常血症家系的表型和基因型。
方法
使用Sysmex CA - 7000对先证者及其家庭成员进行凝血检测，包括活化部分凝血活酶时间（APTT）、凝血酶原时间（PT）和凝血酶时间（TT）。分别采用Clauss法和电泳法测定血浆中纤维蛋白原的质量和数量。通过非变性聚丙烯酰胺凝胶电泳（Native - PAGE）分析纤维蛋白原及其成分。采用直接测序法分析纤维蛋白原基因的所有外显子和外显子 - 内含子边界。
结果
先证者APTT正常，但PT和TT延长。血浆中纤维蛋白原活性降低，但其数量正常。这些异常也在他的姐妹和女儿中发现，而他的妻子正常。基因分析显示FGA基因第2外显子存在杂合G1233A，导致Arg16His错义突变。
结论
遗传性纤维蛋白原异常血症由FGA基因第2外显子的Arg16His突变引起。
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