[一个家系中遗传性凝血因子VII缺乏症与组织因子异常的研究]
[Studies on inherited coagulation factor VII deficiency and tissue factor abnormality in a pedigree].
作者信息
Ding Qiu-lan, Wang Xue-feng, Xu Guan-qun, Huang Xia-ping, Hu Yi-qun, Wu Wen-man, Fu Qi-hua, Wang Hong-li, Wang Zhen-yi
机构信息
Department of Clinical Transfusion, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
出版信息
Zhonghua Xue Ye Xue Za Zhi. 2006 Mar;27(3):150-3.
OBJECTIVE
To investigate the mechanism of clinical haemorrhage in an inherited coagulation factor VII (FVII) deficiency and tissue factor abnormality pedigree.
METHODS
All exons, exon-intron boundaries and the 3', 5' untranslated sequences of FVII and tissue factor (TF) genes were amplified by PCR and sequenced directly. Any mutation identified by direct sequencing was confirmed by reverse sequencing. FVII cDNA of the proband was synthesized with random primers and amplified by nest PCR.
RESULTS
55C-->T heterozygous mutation located in promoter of FVII gene was identified in the proband. The heterozygous mutation was derived from his mother. Tracing the other pedigree members found that his sister had the same heterozygous mutation and the others had wild-type FVII genes. A 9363 C-->T (Arg131Trp) heterozygous polymorphism in TF gene, which was 2.63% frequency of T allele polymorphism, was found in all of the pedigree members.
CONCLUSION
It was the first report that the -55C-->T heterozygous mutation in FVII gene and the Arg131Trp heterozygous polymorphism in TF gene explained the clinical symptom of the proband.
目的
研究一个遗传性凝血因子VII（FVII）缺乏与组织因子异常家系的临床出血机制。
方法
采用聚合酶链反应（PCR）扩增FVII和组织因子（TF）基因的所有外显子、外显子-内含子边界以及3'、5'非翻译序列，并直接进行测序。直接测序鉴定出的任何突变均通过反向测序进行确认。先证者的FVII cDNA用随机引物合成，通过巢式PCR扩增。
结果
在先证者中鉴定出位于FVII基因启动子区的55C→T杂合突变。该杂合突变来自其母亲。追踪其他家系成员发现，他的妹妹有相同的杂合突变，其他人有野生型FVII基因。在所有家系成员中均发现TF基因存在9363 C→T（Arg131Trp）杂合多态性，T等位基因多态性频率为2.63%。
结论
首次报道FVII基因-55C→T杂合突变和TF基因Arg131Trp杂合多态性可解释先证者的临床症状。
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