遗传性因子V缺乏症的基因研究

Studies on the gene defect of Hereditary deficiency of factor V

研究一个遗传性凝血因子 (FV)缺乏症重型患者的基因缺陷。方法 :采用 RT- PCR及 PCR技术 ,对先证者FV c DNA序列全长和基因组 DNA中第 11和第 13外显子的序列进行了 PCR扩增 ,PCR产物回收纯化后直接测序。结果 :对先证者 FV基因组 DNA的部分序列的 PCR扩增 ,经 DNA测序 ,发现有两个基因突变位点 ,其中 2 86 3G→ A为中性多态性位点 ,另一个 336 6 C→ G为同义突变。对先证者 FV c DNA序列全长进行分段扩增均未见目的条带。结论 :推测先证者 FV缺乏可能为 FV基因某种新的突变导致 m RNA不稳定或转录调控异常所致。

Objective:To characterize the gene defect in a patient with hereditary severe deficiency of factor Ⅴ(FV).Methods:We analyzed the full length of FV cDNA and exon 11,13 of FV genomic DNA by reverse transcription-polymerase chain reaction (RT-PCR),PCR and direct sequencing of the amplified fragments.Results:2 mutations were found in the proband.One(1863G→A) was a previously described polymorphism.Another(2863G→A) was a synonymous mutation.And no aimed belt appeared in the amplification of FV cDNA.Conclusions:There is probably a novel mutation which results in the unstability of FV mRNA or abnomal transcription.