1例Aα链Arg16突变所致遗传性异常纤维蛋白原血症家系研究

发布时间：2018-03-01 16:32

本文关键词： 遗传性异常纤维蛋白原血症 Aα链Arg突变凝血酶时间纤维蛋白原　出处：《中国实验血液学杂志》2017年05期 　论文类型：期刊论文

【摘要】：目的:1例遗传性异常纤维蛋白原血症家系的表型及基因型分析。方法:用血凝仪检测凝血指标,Clauss法检测纤维蛋白原活性,血浆蛋白电泳检测纤维蛋白原含量,Native-PAGE检测血浆纤维蛋白原及其片段分布,应用PCR扩增纤维蛋白原基因FGA、FGB和FGC所有外显子及其侧翼序列,PCR产物纯化后直接测序并进行基因分析。结果:先证者APTT正常,PT、TT明显延长;纤维蛋白原含量正常而活性降低,先证者姊妹及其女儿的检测结果与之相似,患者配偶所有指标均正常。基因分析显示,先证者纤维蛋白原FGA基因2号外显子g1233一a杂合碱基改变(密码子CGT→CAT),导致了Arg16His错义突变,该突变来源于父系。结论:该错义突变是导致遗传性异常纤维蛋白原血症的原因。
[Abstract]:Objective to analyze the phenotypic and genotypic characteristics of a family with hereditary abnormal fibrinogenemia. Plasma fibrinogen content was detected by plasma protein electrophoresis and plasma fibrinogen and its fragment distribution were detected by Native-PAGE. All the exons and their flanking sequences of fibrinogen gene FGA-FGB and FGC were amplified by PCR and sequenced and analyzed directly. Results: the APTT of probands was significantly prolonged, the fibrinogen content was normal, and the activity of fibrinogen was decreased. The detection results of the proband sister and their daughter were similar, and all the parameters of the patient's spouse were normal. Gene analysis showed that the heterozygous base of the profibrinogen FGA gene exon 2 g1233a (codon CGT) was changed. 鈫扵he missense mutation of Arg16His originated from the paternal line. Conclusion: the missense mutation is the cause of hereditary abnormal fibrinogenemia.
【作者单位】：南昌大学第一附属医院检验科;
【分类号】：R446.1;R554.5

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