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目的：探讨导致蛋白C、蛋白S、抗凝血酶缺乏症的分子发病机制。方法：检测蛋白C活性(PC:C)、蛋白S活性(PS:C)以及抗凝血酶活性(AT:C)；PCR法分别扩增患者PC、PS、AT 基因序列，寻找突变点。结果：蛋白C合并蛋白S合并抗凝血酶AT 缺乏患者 PC基因启动子区域存在C4867T 杂合突变(NG_016323.1)，为蛋白C基因的多态性位点；在蛋白S 基因第四号外显子区域有 G68395T 杂合突变(NG_009813.1)，导致Arg90Leu(NP_000304.2)，为国际首次报道。遗传性PS缺陷在家系：四名家系成员均检测到PS 基因第四号外显子区域一个杂合(错义)突变，G68395T (NG_009813.1)。结论：PC 基因启动子的多态性位点C4867T 杂合突变(NG_016323.1)，PS 基因第四号外显子区域的G68395T 杂合突变(NG_009813.1)，可能是导致患者PC、PS 联合缺乏的原因。PS 基因第四号外显子区域G68395T (NG_009813.1)杂合突变，可能是导致PS 缺陷症家系成员PS缺乏的原因。

英文摘要:

Objective:To study the molecular pathogenesis of protein deficiency which includes protein C, proteinS and antithrombin deficiency.Methods:The activities of protein C(PC:C), protein S(PS:C) and antithrombin (AT:C) were tested. All exons of protein C, proteinS and antithrombin gene in patients were amplified by polymerase chain reaction (PCR). The PCRproducts were sequenced directly to find the gene mutations.Results:The patient with protein C and protein S deficiency combined with antithrombin deficiency: Direct gene sequencing analysis showed: one mutation C4867T (NG_016323.1) was detected in promoter of PC gene, which is a polymorphism site, The sequencing analysis also showed that a heterozygous missense mutation G68395T (NG_009813.1) was detected in Exon4 of PS gene leading to the substitution of Arg90 by Leu (NP_000304.2) for the propositus. This had never been reported before thus it was a new mutation. The pedigree of inherited protein S deficiency: The sequencing analysis showed that a heterozygous (missense) mutation G68395T (NG_009813.1) was detected in Exon 4 of PS gene. The same with that of the patient discussed above.Conclusion:The polymorphism site C4867T in PC gene and the novel missense mutation G68395T in PS gene caused the patient's deficiency of PC and PS. The novel mutation G68395T in PS gene might be the cause of deficiency of PS for the pedigree.

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