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    • 23. 发明申请
    • GLOBIN VARIANT GENE METHODS AND COMPOSITIONS
    • GLOBIN变体基因方法和组合物
    • WO2004083383A2
    • 2004-09-30
    • PCT/US2004/007325
    • 2004-03-12
    • ALBERT EINSTEIN COLLEGE OF MEDICINE OF YESHIVA UNIVERSITY, A DIVISION OF YESHIVA UNIVERSITYNAGEL, Ronald, L.
    • NAGEL, Ronald, L.
    • C12N
    • C07K14/805A61K38/00A61K48/00
    • Methods are provided for treating a mammal having a disease, where the disease is caused by a globin disease mutation or a mutation in globin regulation, and where the globin disease mutation or the mutation in globin regulation causes production of a deleterious globin chain or production of insufficient quantities of a globin chain. The methods include transfecting the mammal with a vector comprising a mutant globin gene encoding the same globin chain as the deleterious of insufficient globin chain, where the vector is transfected under conditions where the mutant globin gene is expressed in the mammal, and where the mutant globin gene encodes a globin chain that has lower oxygen affinity and similar stability in hemoglobin when compared to the wild-type of the same globin chain. Also provided are methods of improving hemoglobin oxygen exchange in a mammal. The methods include transfecting the mammal with a vector comprising a mutant globin gene under conditions where the mutant globin gene is exp0ressed in the mammal, where the mutant globin gene encodes a globin chain that has lower oxygen affinity and similar stability in hemoglobin when compared to the same globin chain when unmutated.
    • 提供了用于治疗患有疾病由珠蛋白病突变或珠蛋白调节突变引起的疾病的哺乳动物的方法,并且其中球蛋白疾病突变或珠蛋白调节突变引起有害珠蛋白链的产生或产生 球蛋白链数量不足。 所述方法包括用包含编码与不充分球蛋白链有害的相同珠蛋白链的突变珠蛋白基因的载体转染哺乳动物,其中载体在突变型球蛋白基因在哺乳动物中表达的条件下转染,并且其中突变球蛋白 与野生型相同的珠蛋白链相比,基因编码具有较低氧亲和力和血红蛋白相似稳定性的珠蛋白链。 还提供了改善哺乳动物血红蛋白氧交换的方法。 所述方法包括在突变型球蛋白基因在哺乳动物中进行突变的条件下用包含突变型珠蛋白基因的载体转染哺乳动物,其中突变型球蛋白基因编码与血红蛋白相比具有较低的氧亲合力和相似的稳定性的球蛋白链 相同的球蛋白链未突变。