Aymé S, Mattei J F, Mattei M G, Aurran Y, Giraud F
Hum Genet. 1976 Feb 29;31(2):161-75. doi: 10.1007/BF00296144.
Breakpoint distribution was studied from cultured lymphocytes on 7653 metaphases from 524 subjects whose karyotypes were normal. The mean break rate was 5% in both sexes. The frequency increased significantly after 40 years and varied during the year. The location of the breaks was very different from the expected random distribution. The break frequency for each chromosome was different according to the type of break (chromatid, simple chromosomal and chromosomal involving rearrangements). The location of the breaks was also studied according to type of band and with respect to the centromere. A comparison between spontaneous breaks, X-ray induced breaks, breaks in Fanconi's anemia had in congenital rearrangements, show very significant differences.
对524名核型正常受试者的7653个中期培养淋巴细胞进行了断点分布研究。男女的平均断裂率均为5%。40岁以后频率显著增加，且一年中有所变化。断裂的位置与预期的随机分布非常不同。根据断裂类型（染色单体、简单染色体和涉及重排的染色体），每条染色体的断裂频率不同。还根据带型和相对于着丝粒的位置研究了断裂的位置。对自发断裂、X射线诱导断裂、范可尼贫血中的断裂以及先天性重排中的断裂进行比较，结果显示出非常显著的差异。
