Chen P, Kidson C, Imray F P
Clin Genet. 1981 Nov;20(5):331-6. doi: 10.1111/j.1399-0004.1981.tb01044.x.
Ionizing radiation sensitivity was studied in a series of Huntington's Disease (HD) patients and controls by measurement of radiation-induced chromosome aberrations in lymphocytes and by clonogenic survival of lymphoblastoid cell lines. As a group, HD patients were found to be significantly more radiosensitive than controls (p less than 0.001), but there was an overlap between values for the two groups such that an absolute distinction is not possible. These data are consistent with an association between HD and radiosensitivity but not with identity between HD and a radiosensitive phenotype, so that cellular radiosensitivity cannot be used for individual diagnosis. Analysis of three families including 5 HD patients and 11 first-degree relative confirmed this conclusion and demonstrated that even within a given family presymptomatic diagnosis cannot be based on measurement of radiosensitivity. However, the common association of cellular radiosensitivity with HD probands and their families provides a potential lead to the identification of HD gene(s) and so to an eventual understanding of the aetiopathogenesis of this disease at the molecular level.
通过测量淋巴细胞中辐射诱导的染色体畸变以及淋巴母细胞系的克隆形成存活率，对一系列亨廷顿病（HD）患者和对照者的电离辐射敏感性进行了研究。作为一个群体，发现HD患者比对照者对辐射的敏感性明显更高（p小于0.001），但两组的值存在重叠，因此无法进行绝对区分。这些数据与HD和辐射敏感性之间的关联一致，但与HD和辐射敏感表型之间的一致性不一致，因此细胞辐射敏感性不能用于个体诊断。对包括5名HD患者和11名一级亲属的三个家庭进行的分析证实了这一结论，并表明即使在一个特定的家庭中，症状前诊断也不能基于辐射敏感性的测量。然而，细胞辐射敏感性与HD先证者及其家族的常见关联为鉴定HD基因提供了潜在线索，从而最终在分子水平上理解这种疾病的病因发病机制。
