MOLECULAR DEFECT IN AFIBRINOGENEMIA

先天性完全无纤维蛋白原血症是一种罕见的常染色体隐性遗传疾病。纤维蛋白原的缺乏使血液不能凝固。研究者正试图描述这种疾病的分子缺陷。将从血液白细胞中纯化总基因组DNA。使用总肝脏RNA作为模板和形成纤维蛋白原二聚体的3条链的特异性引物，通过RT-PCR合成3种纤维蛋白原基因的探针。然后用P32标记扩增的cDNA。将在核心实验室进行Southern印迹，以寻找3个基因之一的总体缺失。该实验室将用于寡核苷酸合成、PCR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.