纤维蛋白原β链基因突变导致一种先天性无纤维蛋白原血症
[Fibrinogen beta chain gene mutation contributes to one congenital afibrinogenemia].
作者信息
Xu Xiu-cai, Zhou Rong-fu, Wu Jing-sheng, Fang Yi, Wang Xue-feng, Zhai Zhi-min, Wang Hong-li
机构信息
Anhui Provincial Hospital, Hefei 230001, China.
出版信息
Zhonghua Xue Ye Xue Za Zhi. 2005 Mar;26(3):137-9.
OBJECTIVE
To identify the fibrinogen (Fg) gene mutations in a Chinese pedigree of congenital afibrinogenemia.
METHODS
The plasma Fg activity and protein of the proband and his family members were detected. Genomic DNA was isolated from the peripheral blood mononuclear cells. All the exons and exon-intron boundaries of fibrinogen gene were amplified by PCR and sequenced thereafter.
RESULTS
Two mutations, 7972 del G in FGB and T2543A in FGG, were found in the proband.
CONCLUSIONS
FGG2543 is a polymorphism site, which lead to the polymorphism of gamma144 I/K. The G deletion at base 7972 of FGB contributes to the frameshift mutation after amino acid 419, resulting in the truncated beta chain without the terminal 27 amino acids. The latter may contributes to the pathogenetic mechanisms in Chinese congenital afibrinogenemia patients. The G deletion at base 7972 of FGB is identified for the first time.
目的
鉴定一个中国先天性无纤维蛋白原血症家系中的纤维蛋白原（Fg）基因突变。
方法
检测先证者及其家庭成员的血浆Fg活性和蛋白。从外周血单个核细胞中分离基因组DNA。通过聚合酶链反应（PCR）扩增纤维蛋白原基因的所有外显子和外显子-内含子边界，随后进行测序。
结果
在先证者中发现了两个突变，分别为FGB基因中的7972delG和FGG基因中的T2543A。
结论
FGG2543是一个多态性位点，导致γ144I/K多态性。FGB基因第7972位碱基G的缺失导致419位氨基酸之后的移码突变，产生了缺少末端27个氨基酸的截短β链。后者可能是中国先天性无纤维蛋白原血症患者发病机制的原因。FGB基因第7972位碱基G的缺失为首次发现。
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