人类染色体上的遗传性脆性位点。I. 影响淋巴细胞培养中表达的因素。
Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.
作者信息
Sutherland G R
出版信息
Am J Hum Genet. 1979 Mar;31(2):125-35.
Abstract
The expression of heritable fragile sites on human chromosomes has been shown to be dependent upon composition of the tissue medium for sites at 2q11, 10q23, 11q13, 16p124, 20p11 and Xq27 or 28 but not for the site at 16q22. Expression of the fragile sites is inhibited by folic acid, thymidine, folinic acid, and probably bromodeoxyuridine, and induced by methrotrexate. In addition, there is a correlation between frequency of expression of the sites and pH of the culture medium for the sites on 2q, 10q and Xq. Possible reasons for these findings are discussed, and a definition and classification of fragile sites is proposed.
摘要
已表明人类染色体上可遗传脆性位点的表达取决于2q11、10q23、11q13、16p124、20p11以及Xq27或28处位点的组织培养基成分，但16q22处的位点并非如此。叶酸、胸苷、亚叶酸以及可能的溴脱氧尿苷可抑制脆性位点的表达，而甲氨蝶呤可诱导其表达。此外，2q、10q和Xq上这些位点的表达频率与培养基的pH值之间存在相关性。文中讨论了这些发现的可能原因，并提出了脆性位点的定义和分类。
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