Elli R, Petrinelli P, Caporossi D, Nicoletti B, Antonelli A
J Genet Hum. 1983 Sep;31(3):211-21.
The frequencies of sister chromatid exchanges and of aspecific chromosome aberrations have been investigated in the lymphocytes from a Werner patient, from an Acrogeria patient and from three members of a family with Keratosis Palmo-Plantaris. These investigations point out that: 1) the SCE frequency is significatively enhanced in Werner as in KPP lymphocytes, 2) the frequency of aspecific chromosome aberrations is increased only in Werner lymphocytes, without evidence of variegated translocation mosaicism. The findings confirm that SCE and chromosome aberrations do not necessarily result from the same genetic damage and that SCE may represent the cytological evidence of unexcised non fatal DNA lesions, which occasionally may be responsible for carcinogenesis.
对一名沃纳综合征患者、一名早老症患者以及一个掌跖角化症家族的三名成员的淋巴细胞中的姐妹染色单体交换频率和特定染色体畸变频率进行了研究。这些研究指出：1）沃纳综合征患者和掌跖角化症患者的淋巴细胞中姐妹染色单体交换频率显著提高；2）仅沃纳综合征患者的淋巴细胞中特定染色体畸变频率增加，且无斑驳易位嵌合体的证据。这些发现证实，姐妹染色单体交换和染色体畸变不一定由相同的遗传损伤引起，姐妹染色单体交换可能代表未切除的非致命DNA损伤的细胞学证据，这些损伤偶尔可能导致癌变。
