放射人员人类着色性干皮病基因D多态性与染色体损伤易感性的关系

目的 探讨放射人员人类着色性干皮病基因D（XPO）多态性与染色体损伤易感性的关系。方法 选择从事放射工作工龄大于1年、出现染色体损伤的182人为病例组，采用1：1配对设计，从同样射线暴露的人员中选择与病例同性别、同民族、年龄相差≤5岁、与病例在同一单位且同工作岗位、工龄相差≤1年、无染色体损伤和血象异常的人为对照。微量全血培养法制备染色体标本，观察、记录染色体畸变率。采用多聚酶链反应-限制性片段长度多态性分析技术（PCR-RFLP）检测XPD基因型。结果 病例组751位点野生基因型和156位点突变基因型频率高于对照组，差异有统计学意义（P〈0．05）；312位点各基因型在两组间分布的差异无统计学意义（P〉0．05）。病例组751A和156A等位基因频率高于对照组，差异有统计学意义（P〈0．05）；312位点等位基因在两组间分布的差异无统计学意义（P〉0．05）。结论 携带751野生基因型的个体暴露辐射后易发生染色体损伤。XPD156突变基因型在辐射致染色体损伤过程中可能是一种危险因素。同时携带751AA和156（CA或AA）基因型个体暴露射线后，发生染色体损伤的概率更大。未发现XPD312位点与辐射致染色体损伤有关联。

Association of genetic polymorphism of XPD with chromosomal damage in workers exposed to radiation

OBJECTIVE: To explore association genetic polymorphism of XPD with chromosomal damage in workers exposed to radiation. METHODS: 182 workers exposed to radiation for at least one year with chromosomal damage were selected as cases based on a general health examination for all workers exposed to radiation in Tangshan city. The control group without chromosomal damage was matched to case by age (within 5 years), sex, work unit, type of exposed to radiation, cumulate serve length (within 1 year) according to 1:1. The micro whole blood cultivation was used for the chromosome analysis. The chromosome aberration type and rate were observed and counted. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to examine the genotype of three XPD loci (751, 312 and 156). RESULTS: The frequency of XPD 751 AA in cases was higher than that in controls (P < 0.05). The frequency of 751 allele in case group was statistically higher than that in the control groups (P < 0.05). No statistical difference was found in the frequencies of XPD 312 genotype and allele between the case and control group (P > 0.05). 156 mutant gene type in case group was higher than that in the control groups. The frequency of 156 A allele in case group were higher than that of the control groups (P < 0.05). The frequency of genotype with both 751AA and 156CA or 751AA and 156AA was higher in cases than that of controls (P < 0.05). CONCLUSION: XPD 751AA genotype is a possible risk factor for radiation-induced chromosomal damage. XPD 156 mutant gene type is a possible risk factor for radiation-induced chromosomal damage. Individuals with both XPD 751AA and 156 (CA+AA) genotypes are susceptible to radiation-induced chromosomal damage. No association of XPD 312 polymorphism with radiation-induced chromosomal damage is found.