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    • 10. 发明授权
    • Nucleic acids of the bloom's syndrome gene
    • 绽放综合征基因的核酸
    • US5824501A
    • 1998-10-20
    • US559303
    • 1995-11-15
    • Nathan A. EllisJames GermanJoanna Groden
    • Nathan A. EllisJames GermanJoanna Groden
    • A61K48/00C12N9/90C12N15/12C12Q1/68C07H21/04C12N15/00C12N15/63
    • C12Q1/6883C12N9/90A01K2217/05A01K2217/072A01K2267/0306A61K48/00C12Q2600/154C12Q2600/156
    • The present invention provides a method for diagnosing BS as well as determining whether a subject is a carrier of a mutated BLM gene. The present invention also provides one or more single-stranded nucleic acid probes and antibodies which may be formulated in kits, and used for diagnosing BS or determining whether a subject is a carrier of a mutated BLM gene. In addition, the present invention provides a method for treating or preventing the onset of BS in a subject in need of such treatment or prevention, as well as vectors and stem cells useful for such treatment or prevention. The present invention also provides a purified and isolated nucleic acid encoding an enzymatically active BLM protein, a vector comprising this nucleic acid, a cell stably transformed with this vector, as well as a method for producing recombinant, enzymatically active BLM protein. A purified, enzymatically active BLM protein is also provided by the present invention. Finally, the present invention provides a vector, an embryonic stem cell, and a non-human, transgenic animal, each of which comprises a mutated BLM gene, as well as a method for producing the non-human, transgenic animal.
    • 本发明提供了用于诊断BS以及确定受试者是否是突变的BLM基因的载体的方法。 本发明还提供一种或多种单链核酸探针和抗体,其可以配制在试剂盒中,并用于诊断BS或确定受试者是否是突变的BLM基因的载体。 此外,本发明提供了治疗或预防需要这种治疗或预​​防的受试者以及可用于这种治疗或预​​防的载体和干细胞的BS发病的方法。 本发明还提供了编码酶活性BLM蛋白质的纯化和分离的核酸,包含该核酸的载体,用该载体稳定转化的细胞,以及用于产生重组酶活性BLM蛋白质的方法。 纯化的酶活性BLM蛋白也由本发明提供。 最后,本发明提供载体,胚胎干细胞和非人转基因动物,其中每一种都包含突变的BLM基因,以及用于生产非人转基因动物的方法。