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常染色体隐性遗传疾病Bloom氏综合征细胞遗传学的异常表现很独特,而且变化很多,存在多种细胞核型、普遍的SCE率变化、染色体断裂等。对它的遗传物质基础研究发现,多种DNA修复酶的缺陷可能是染色体异常的直接原因,特别是DNA连接酶Ⅰ的缺陷和人类尿嘧啶DNA糖基酶的异常。对DNA连接酶Ⅰ的研究,还提示将其结构基因尽快克隆化,将对修复酶异常疾病的病因学研究产生重大影响。
The abnormality of autoimmune recessive genetic disease Blooms syndrome cytogenetics is unique, and there are many changes, there are a variety of cell karyotypes, changes in the general rate of SCE, chromosome breakage. A basic study of its genetic material found that defects in multiple DNA repair enzymes may be the direct cause of chromosomal abnormalities, particularly defects in DNA ligase I and abnormalities in human uracil DNA glycosylase. The study of DNA ligase I also suggests that the structural gene will be cloned as soon as possible, which will have a major impact on the etiology of repair enzyme abnormalities.