Two Novel Heterozygous Mutations (p.γPhe230Val and p.AαAsn839Thr) Cause Hereditary Hypodysfibrinogenemia in Two Chinese Independent Families.

The objective of this study was to explore the molecular defects in two Chinese families with hypodysfibrinogenemia. The coagulation method and immunoturbidimetric method were used to detect plasma fibrinogen activity and plasma fibrinogen antigen. The fibrinogen genes were amplified by PCR, and suspected mutations were confirmed by reverse sequencing. Bioinformatics and model analysis were used to study the conservatism and harm of the mutations. Study showed that the Fg:C and Fg:Ag of the probands of the two families were reduced, respectively, to 0.80g/L, 0.92g/L and 1.35g/L, 1.42g/L; gene analysis revealed that the proband 1 had a heterozygous missense mutation of c.688T>G (p.γPhe230Val) in exon 7 of the FGG gene; the c.2516A>C (p.AαAsn839Thr) heterozygous missense mutation in exon 6 of the FGA gene was got by the proband 2. These mutations found in this study might be related to the hypodysfibrinogenemia.

Application of next-generation sequencing in diffuse large B-cell lymphoma.

Diffuse large B-cell lymphoma (DLBCL) is the most common subtype of invasive non-Hodgkin lymphoma. There is great heterogeneity in its molecular biological characteristics, clinical manifestations and prognosis. The use of rituximab has greatly improved the cure rate of DLBCL, but there are still 30% of patients with poor prognosis. In the era of precision medicine, the significance of molecular biology and genetic factors on the diagnosis, treatment and prognosis of patients has been found. Among these, next-generation sequencing technology plays an important role. This paper reviews the research progress of next-generation sequencing technology in the classification, diagnosis, prognosis and molecular targeted therapy of DLBCL.