一名意大利B型血友病患者的基因缺失
Gene deletion in an Italian haemophilia B subject.
作者信息
Bernardi F, del Senno L, Barbieri R, Buzzoni D, Gambari R, Marchetti G, Conconi F, Panicucci F, Positano M, Pitruzzello S
出版信息
J Med Genet. 1985 Aug;22(4):305-7. doi: 10.1136/jmg.22.4.305.
Abstract
DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal.
摘要
采用Southern印迹技术并与因子IX cDNA探针杂交，对20例意大利B型血友病患者的DNA进行了分析。在1例对输注因子产生抗体的患者中检测到因子IX基因的大片段缺失；其他19例受检者的EcoRI图谱正常。
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