Haas O A, Seyger M
CCRI, Children's Cancer Research Institute, Vienna, Austria.
Cancer Genet Cytogenet. 1993 Oct 15;70(2):112-6. doi: 10.1016/0165-4608(93)90178-o.
The gain of single additional chromosomes is a very common finding among the nonrandom abnormalities with human neoplasms. According to the current opinion, such trisomies result from a disease-related mitotic nondisjunction. In contrast, we suggest that some of these trisomies may in fact represent tissue-confined residual cell populations of meiotic origin. Our hypothesis is based on recent findings of uniparental disomies in humans (i.e., two homologous chromosomes are derived from the same parent) and on the notion that many of these disomies probably are the result of the successful correction of an initially trisomic conceptus. Thus, the trisomic neoplasm may represent the original trisomic karyotype, whereas the apparently normal disomic constitutional karyotype may be the acquired, corrected one. We propose molecular genetic strategies to test our hypothesis and suggest that constitutional uniparental disomies may be associated with an increased probability of developing neoplastic diseases characterized by trisomies for the respective chromosomes.
在人类肿瘤的非随机异常中，额外单个染色体的增加是一个非常常见的现象。根据目前的观点，这种三体性是由疾病相关的有丝分裂不分离导致的。相比之下，我们认为其中一些三体性可能实际上代表了减数分裂起源的组织局限性残余细胞群体。我们的假设基于最近在人类中发现的单亲二体性（即两条同源染色体来自同一亲本），以及这样一种观念，即许多这些二体性可能是最初三体性概念成功校正的结果。因此，三体性肿瘤可能代表原始的三体性核型，而表面上正常的二体性体质核型可能是获得性的、校正后的核型。我们提出分子遗传学策略来检验我们的假设，并表明体质单亲二体性可能与发生以相应染色体三体性为特征的肿瘤性疾病的概率增加有关。
