布卢姆综合征。IV. 淋巴细胞中的姐妹染色单体交换
Bloom's syndrome. IV. Sister-chromatid exchanges in lymphocytes.
作者信息
German J, Schonberg S, Louie E, Chaganti R S
出版信息
Am J Hum Genet. 1977 May;29(3):248-55.
Abstract
An abnormally great amount of exhange between both sister and nonsister-but-homologous chromatids is a highly characteristic feature of cultured blood lymphocytes from individuals with Bloom's syndrome. However, a population of lymphocytes which exhibit a normal amount of exchange can be detected in the blood of some individuals with this syndrome. This coexistence of cells with a greatly increased number of sister-chromatid exchanges and others with a normal number results in a phenotypic dimorphism, in apparent contradiction to the autosomal recessive mode of inheritance of the syndrome.
摘要
姐妹染色单体之间以及非姐妹但同源染色单体之间异常大量的交换是布卢姆综合征患者培养的血液淋巴细胞的一个高度特征性特点。然而，在一些患有该综合征的个体血液中可检测到一群表现出正常交换量的淋巴细胞。姐妹染色单体交换数量大幅增加的细胞与数量正常的细胞共存导致了表型二态性，这显然与该综合征的常染色体隐性遗传模式相矛盾。
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