Marlhens F, Achkar W A, Aurias A, Couturier J, Dutrillaux A M, Gerbault-Sereau M, Hoffschir F, Lamoliatte E, Lefrançois D, Lombard M
Hum Genet. 1986 Aug;73(4):290-7. doi: 10.1007/BF00279088.
Chromosome breaks and chromatid-type lesions from a prospective study of more than 1000 lymphocyte karyotypes from each of six controls were analysed. These lesions were more frequent in older (75 years old on average) than in younger (29 years old on average) controls, especially after 72 h cultures. All controls were found to be carriers of fragile sites. The most frequent were 3p14.3 and 16q23, especially in older controls. At least one fra (X) (q27) mitosis was found in each control. Most deletions occurred after breakage in heterochromatin or in late-replicating euchromatin. As almost all radials were either "mitotic chiasmata" or triradials (branched chromosomes), it is concluded that chromatid exchanges between non-homologous segments are very rare, and indicate chromosomal instability syndrome or recent exposure to a mutagen.
对来自六个对照组中每组超过1000个淋巴细胞核型的前瞻性研究中的染色体断裂和染色单体型损伤进行了分析。这些损伤在年龄较大(平均75岁)的对照组中比在年龄较小(平均29岁)的对照组中更频繁,尤其是在培养72小时后。发现所有对照组都是脆性位点的携带者。最常见的是3p14.3和16q23,尤其是在年龄较大的对照组中。在每个对照组中至少发现一个fra(X)(q27)有丝分裂。大多数缺失发生在异染色质或晚复制常染色质断裂之后。由于几乎所有的辐射体要么是“有丝分裂交叉”要么是三辐射体(分支染色体),得出的结论是,非同源片段之间的染色单体交换非常罕见,并且表明染色体不稳定综合征或近期接触过诱变剂。