中文摘要：

Nijmegen断裂综合征（NBS）是一种极其罕见的常染色体隐性遗传病，表现为高辐射敏感性、免疫缺陷、发育不良、早衰、肿瘤易感性、小头畸形等。现就NBS症状、NBS1的克隆以及NBS1的基因产物特点和它在细胞通路中的作用作一简要概括，旨在了解NBS发病机制和基因组不稳定性及细胞辐射敏感性的遗传和分子基础，从而为NBS临床治疗和肿瘤放化疗提供新理论依据。

英文摘要：

Nijmegen breakage syndrome（NBS） is a rare autosomal recessive disorder characterized by radiation hypersensitivity, immunodeficiency, growth retardation, premature aging, predisposition to malignancy and microcephaly. The article focuses on the symptonsof NBS characteristics, the cloning of NBS1, the recent advances of NBS1 gene product and its presumed role in various cellular pathways. The pathogenesy of NBS, the molecular mechanisms responsible for genomic instability and radiation sensitivity are also be studied.