MOLECULAR DEFECT IN AFIBRINOGENEMIA

先天性完全性无纤维蛋白原血症是一种罕见的常染色体隐性遗传病。纤维蛋白原的缺乏使血液不能凝结。研究人员正试图确定这种疾病的分子缺陷的特征。总基因组DNA将从血白细胞中提纯出来。以肝总RNA为模板，以形成纤维蛋白原二聚体的3条链为模板，用RT-PCR方法合成3条纤维蛋白原基因的探针。然后用P32标记扩增的cDNA.核心实验室将进行Southern杂交，以寻找3个基因中的一个基因的严重缺失。该实验室将用于寡核苷酸合成、聚合酶链式反应和Southern分析。

Congenital complete afibrinogenemia is a rare autosomal recessive disorder. The absence of fibrinogen makes blood incoagulable. The investigator is attempting to characterize the molecular defect in this disease. Total genomic DNA will be purified out of blood leukocytes. Probes for the 3 fibrinogen genes will be synthesized by RT-PCR using total liver RNA as the template and specific primers for the 3 chains that form fibrinogen dimers. The amplified cDNA is then labelled with P32. Southern blots will be performed in the Core Laboratory to look for gross deletions in one of the 3 genes. the lab will be utilized for oligonucleotide synthesis, PCR and Southern analysis.