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Bloom综合征(以下简称BS),与其它的染色体断裂综合征不同,它具有独特的同源染色体之间片段交换增加的倾向。这反映有丝分裂交叉和姐妹染色单体互换发生率增高。至于减数分裂中的交换是否增加,仍不清楚。BS为常染色体隐性遗传。主要症状为:出生体重低,生长发育迟缓,阳光敏感性红斑和免疫缺陷。这种罕见的疾病引起了人们极大兴趣,原因之一是在于本病的纯合子有肿瘤的高发风险,约有四分之一的BS病人在生命早期即发生恶性肿瘤。
Bloom syndrome (hereinafter referred to as BS), unlike other chromosomal breakage syndromes, has a tendency to increase fragment exchange between unique homologous chromosomes. This reflects the increased incidence of mitotic crossover and sister chromatid exchange. It remains unclear whether the exchanges in meiosis increase. BS is autosomal recessive. The main symptoms are: low birth weight, retarded growth, sun-sensitive erythema, and immunodeficiency. This rare disease has caused a great deal of interest. One of the reasons is that the homozygote of this disease has a high risk of cancer, and about one-quarter of BS patients develop malignant tumors early in life.