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由于Bloom综合征解旋酶(Bloom’s syndrome helicase,BLM)基因缺陷引起的Bloom综合征(Bloom’s syndrome,BS)是一种罕见的常染色体隐性遗传病,BS患者的临床特征表现为严重的生长迟缓、学习障碍、免疫缺陷等[1-2]。BLM解旋酶在睾丸和胸腺中高表达[3],另一方面,BLM基因的突变和高表达与肿瘤发生相关[4],如结肠癌、肺癌、白血
Bloom's syndrome (BS), a disorder caused by Bloom's syndrome helicase (BLM) gene defect, is a rare autosomal recessive disease. The clinical features of patients with BS manifest as severe growth retardation , Learning disabilities, immunodeficiency [1-2]. BLM helicase is highly expressed in testis and thymus [3]. On the other hand, the mutation and high expression of BLM gene are associated with tumorigenesis [4], such as colon cancer, lung cancer, white blood