Jotterand-Bellomo M
J Genet Hum. 1984 Jul;32(3):155-66.
It is possible to distribute the 17 autosomic fragile sites presently known in three categories according to their sensitivity: BrdU-sensitive sites (10q25, 16q22, 17p12), distamycin A-sensitive sites (16q22, 17p12) and folate- and thymidilate-sensitive sites (2q11-q14, 3p14, 6p23, 7p11, 8q22, 9p21, 9q32, 10q23, 11q13, 11q23, 12q13, 16p12, 16q23, 17p12, 20p11). Four fundamental problems are discussed, first the relation between the presence of a fragile site and the phenotype, secondly the incidence of autosomic sites, third the origin of fragility (particularity of DNA structure, defect of the DNA/proteins binding and abnormal arrangement of chromatin, abnormality of the metaphasic scaffold) and fourth the localization of fragile sites.
根据目前已知的17个常染色体脆性位点的敏感性,可将其分为三类:BrdU敏感位点(10q25、16q22、17p12)、偏端霉素A敏感位点(16q22、17p12)以及叶酸和胸苷酸敏感位点(2q11 - q14、3p14、6p23、7p11、8q22、9p21、9q32、10q23、11q13、11q23、12q13、16p12、16q23、17p12、20p11)。文中讨论了四个基本问题,一是脆性位点的存在与表型之间的关系,二是常染色体位点的发生率,三是脆性的起源(DNA结构的特殊性、DNA/蛋白质结合缺陷、染色质异常排列、中期支架异常),四是脆性位点的定位。