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遗传性无纤维蛋白原血症是一种由于纤维蛋白原基因缺陷所致常染色体隐性遗传病。为了对1例遗传性无纤维蛋白原血症家系进行表型和基因型分析,采集了该家系三代10人外周血,吸取上层血浆用血凝仪检测活化部分凝血活酶时间(APTT)、凝血酶原时间(PT)和凝血酶时间(TT);纤维蛋白原(Fg)含量分别用Clauss法和免疫比浊法进行检测;以常规酚氯仿法抽提家系所有成员外周血基因组DNA,PCR扩增Fg基因FGA、FGB和FGG所有外显子及其侧翼序列和启动子区,PCR产物纯化后直接测序以检测基因突变。102例健康献血者作为正常对照。结果表明:先证者表型诊断为无纤维蛋白原血症;基因型呈FgΒβ链Arg17stop和Gly347Arg复合杂合突变,前者来源于母系,后者来源于父系。结论:FgΒβ链Arg17stop和Gly347Arg复合杂合突变是引起该家系先证者产生无纤维蛋白原血症的原因。
Hereditary fibrinogenmia is an autosomal recessive disease caused by defects in the fibrinogen gene. In order to analyze the phenotype and genotype of a hereditary fibrinogenfamily pedigree, three generations of the pedigree were collected from 10 generations of peripheral blood, the upper plasma was taken for detection of activated partial thromboplastin time (APTT), coagulation (PT), thrombin time (TT) and fibrinogen (Fg) were detected by Clauss method and immunoturbidimetric method respectively. Genomic DNA was extracted from peripheral blood of all the pedigree members by conventional phenol-chloroform method. PCR amplification All exons of FGA, FGB and FGG and their flanking and promoter regions were amplified. The PCR products were purified and sequenced directly to detect gene mutations. 102 healthy blood donors as a normal control. The results showed that the phenotypes of probands were diagnosed as fibrinogen-free. The genotypes were FgBβ-Arg17stop and Gly347Arg complex hybrids. The former was derived from the maternal lineage and the latter from the paternal lineage. CONCLUSION: The compound heterozygous mutation of Arg17stop and Gly347Arg in Fgββ chain is the cause of fibrinogenemia in this pedigree.