Wang Wen-bin, Wang Hong-li, Huang Cheng-yin, Fang Yi, Fu Qi-hua, Zhou Rong-fu, Xie Shuang, Ding Qiu-lan, Wu Wen-man, Wang Xue-feng, Hu Yi-qun, Wang Zhen-yi
Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Zhonghua Xue Ye Xue Za Zhi. 2003 Sep;24(9):449-51.
To investigate the gene mutations in a pedigree with inherited prothrombin (FII) deficiency.
The activated partial thromboplastin time (APTT), prothrombin time (PT), FII activity (FII:C) and FII antigen (FII:Ag) test were used for phenotype diagnosis. The genomic DNA was extracted from the peripheral blood of the propositus. All the 14 exons, intron/exon boundaries and the 5' and 3' untranslated regions (UTR) of the prothrombin gene were amplified by polymerase chain reaction (PCR). The PCR products were screened by direct sequencing and the mutations detected were further confirmed by restricted enzyme digestion. One hundred and three healthy blood donors were used as controls.
The phenotype of the propositus was prothrombin deficiency (type I). With reference to the prothrombin nucleotide sequence published by Degen & Dacie, three variations were found in the FII gene of the propositus. Among them, the novel mutation was a homozygous A601G subtitution in exon 2.
The prothrombin deficiency of the propositus is caused by a homozygous Glu29 to Gly mutation in the prothrombin gene.
研究一个遗传性凝血酶原（FII）缺乏家系中的基因突变情况。
采用活化部分凝血活酶时间（APTT）、凝血酶原时间（PT）、FII活性（FII:C）及FII抗原（FII:Ag）检测进行表型诊断。从先证者外周血中提取基因组DNA。采用聚合酶链反应（PCR）扩增凝血酶原基因的全部14个外显子、内含子/外显子边界以及5'和3'非翻译区（UTR）。PCR产物经直接测序筛选，检测到的突变通过限制性酶切进一步确认。选取103名健康献血者作为对照。
先证者的表型为凝血酶原缺乏（I型）。参照Degen和Dacie发表的凝血酶原核苷酸序列，在先证者的FII基因中发现3个变异。其中，新突变是外显子2中的纯合A601G替换。
先证者的凝血酶原缺乏是由凝血酶原基因中的纯合Glu29突变为Gly所致。
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