XPD基因多态性与辐射致染色体损伤关系

Study on polymorphism of XPD gene and radiation-induced chromosomal damage

目的探讨人类着色性于皮病基因D（XPD基因）751位点、312位点多态性与电离辐射损伤效应之间的相关性，为筛检电离辐射高危人群提供生物学指标。方法应用病例对照研究方法，以唐山市所有从事射线工作的人员为对象，选择有染色体异常的放射人员182人为病例组，以无辐射损伤182人为对照组，进行1：1配对。染色体分析采用微量全血培养法，XPD基因751,312位点基因型检测采用聚合酶链反应．限制性片断长度多态性（PCR-RFLP）分析。结果XPD751位点野生型AA与突变基因型（包括突变杂合子AC和突变纯合子CC）在病例组与对照组之间差异有统计学意义，病例组野生基因型频率高于对照组（OR=1．90。95％CI=1．10～3．28，P〈0．05）。结论XPD751位点基因多态性与辐射致染色体损伤有关联，751位点野生基因型AA是辐射致染色体损伤的危险因素。

Objective To study the association betwen XPD751 and XPD312 locus gene polymorphisms and suscepbility to radiation-induced damage, and to provide reliable biomarkers for evaluating ionizing radiation-induced damage and screening the high-risk group exposed to ionizing radiation. Methods All the subjects were recruited from workers exposed to radiation in Tangshan city, 182 with chromosomal aberrations were selected as cases and the control group without radiation-induced damage, moreover the case group matched the control group according to 1 ： 1. Chromosome analysis with the microamount of full blood sample cultivation. PCR-RFLP was used to examine the genotype of two XPD loci（751 and 312）. Results Statistical difference was found between the frequencies of XPD 751 AA（wild type） and the mutant gene type including heterozygote AC and homozvgote CC（ OR = 1.90, 95 % CI = 1.10 - 3.28, P 〈： 0.05 ）. The wild gene type in case group was statistically higher than that in the control groups. No statistcal difference was found between the frequencies of XPD 312 CA（wild type） and the mutant gene type including heterozygote GC and homozygote AA（P 〉 0.05）. Conclusion XPD 751 polymorphism is associated with ionizing radiation-induced chromosomal damage, and AA genotype in XPD751 is possible risk factor of radiation-induced chromosomal damege.