本文關(guān)鍵詞： 遺傳性異常纖維蛋白原血癥 Aα鏈Arg突變 凝血酶時(shí)間 纖維蛋白原　出處：《中國(guó)實(shí)驗(yàn)血液學(xué)雜志》2017年05期 　論文類型：期刊論文

【摘要】：目的:1例遺傳性異常纖維蛋白原血癥家系的表型及基因型分析。方法:用血凝儀檢測(cè)凝血指標(biāo),Clauss法檢測(cè)纖維蛋白原活性,血漿蛋白電泳檢測(cè)纖維蛋白原含量,Native-PAGE檢測(cè)血漿纖維蛋白原及其片段分布,應(yīng)用PCR擴(kuò)增纖維蛋白原基因FGA、FGB和FGC所有外顯子及其側(cè)翼序列,PCR產(chǎn)物純化后直接測(cè)序并進(jìn)行基因分析。結(jié)果:先證者APTT正常,PT、TT明顯延長(zhǎng);纖維蛋白原含量正常而活性降低,先證者姊妹及其女兒的檢測(cè)結(jié)果與之相似,患者配偶所有指標(biāo)均正常�；蚍治鲲@示,先證者纖維蛋白原FGA基因2號(hào)外顯子g1233一a雜合堿基改變(密碼子CGT→CAT),導(dǎo)致了Arg16His錯(cuò)義突變,該突變來(lái)源于父系。結(jié)論:該錯(cuò)義突變是導(dǎo)致遺傳性異常纖維蛋白原血癥的原因。
[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.
【作者單位】： 南昌大學(xué)第一附屬醫(yī)院檢驗(yàn)科;
【分類號(hào)】：R446.1;R554.5

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