Rouy Stanislas, Vidaud Dominique, Alessandri Jean-Luc, Dautzenberg Marie-Dominique, Venisse Laurence, Guillin Marie-Claude, Bezeaud Annie
Service d'Hématologie Biologique, Clichy, France.
Br J Haematol. 2006 Mar;132(6):770-3. doi: 10.1111/j.1365-2141.2005.05920.x.
A new prothrombin variant, with a point mutation at nucleotide 20 029 resulting in Asp 552 to Glu substitution (prothrombin numbering), has been identified in a male newborn. Plasma prothrombin level was <3%, 16% and 60% when measured by clotting, chromogenic and immunological assays respectively. The substitution did not affect the rate of prothrombin conversion to thrombin but altered thrombin activity. Amino acid 552 has been reported to be involved in the allosteric transition, which is induced by sodium binding to thrombin. This is the first known amino acid substitution at this site to result in dysprothrombinaemia.
在一名男婴中发现了一种新的凝血酶原变体，其核苷酸20029处存在点突变，导致Asp 552被Glu取代（凝血酶原编号）。通过凝血、发色底物法和免疫分析法检测时，血浆凝血酶原水平分别<3%、16%和60%。该取代不影响凝血酶原向凝血酶的转化速率，但改变了凝血酶活性。据报道，氨基酸552参与了变构转变，这种转变是由钠与凝血酶结合诱导的。这是该位点首次已知的氨基酸取代导致凝血酶原血症异常。
