一个纤维蛋白原_链Arg275H_省略_致的遗传性异常纤维蛋白原血症家系_方怡.pdfVIP

2005 4 22 2 Chin J Med Genet April, 2005, Vol. 22, No. 2 201 一 个纤维蛋白原C 链Arg275His 突变导致的遗传性异常 纤维蛋白原血症家系 方怡　王学锋　傅启华　武文漫　 丁秋兰　戴菁　周荣富　王文斌　谢爽　王鸿利 3 5 , C , S Clauss -DNA,PCR F GA F GB F GG , PCR , 2 ,,, ; F GG 8 g. 5678 G A , Arg275His , C Arg275His ; ; 275 1, - Inherited dysfibrinogenemia causedby Arg His in the C chain of fibrinogen FA N G Yi W A N G X ue , - , - , - , , - , - , f eng F U Qi hua W U W en man D I N G Qiu lang DA I J ing ZH OU Rong f u WA N G Wen bin X I E , - . ( , , Shuang WA N G H ong li S hang hai I n titute of H ematology R uij in H o p ital S hang hai S econd M edical Univ er ity , Shanghai, 200025 P .R . China . E mail :Wanghong li 602 163. com) Corr e p onding author : W A N G H ong -li AbstractObjective T o analyze the phenotype and genotype of a family with inherited dysfibrinogenemia. MethodsLaboratory tests including activated partial thromboplastin time (APTT), prothrombin time ( PT) , thrombin time ( TT), and the activity of protein C ( PC) , protein S(PS) and antithrombin (AT) were conducted in the proband and 4 family members. T he activity and antigen of fibrinogen in plasma were measured by functional and immunoturbidimetry assay respectively All the, . - . exons and exon intron boundaries of the three fibrinogen genes were analyzed by direct sequencing , . Results The proband had normal APTT and PT but prolonged TT Her plasma fibrinogen levels were extremely reduc