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目的对5例受2.0~5.2Gyγ射线照射的事故病人照后3.5~5.5年外周血淋巴细胞HPRT基因突变谱进行监测。方法用多引物聚合酶链式反应扩增突变细胞HPRT基因的全部外显子伴以琼脂糖凝胶电泳以分析基因突变谱。结果外显子缺失是电离辐射所致HPRT基因突变的主要特征。随着时间推移,外显子缺失总数由照后3.5年的18/24(75%)下降至4.5年的31/46(67.4)和5.5年的12/30(40%);而点突变比例则相应地上升。这可能反映了DNA损伤的修复和病人机体的恢复。结论HPRT基因突变在体内长期存在,但基因突变谱逐渐发生值得注意的变化,随访观察仍应继续
Objective To monitor the HPRT gene mutation of peripheral blood lymphocytes from 5 to 5.5 years after accidental irradiation in 5 patients irradiated with 2.0-5.2 Gy γ-rays. Methods All exons of HPRT gene were amplified by multi-primer polymerase chain reaction (PCR) and analyzed by agarose gel electrophoresis. Results Exon deletion was the main characteristic of HPRT gene mutation caused by ionizing radiation. As time went by, the total number of exon deletions decreased from 18/24 (75%) in the 3.5 years after the reference to 31/46 (67.4) in 4.5 years and to 12/30 in 5.5 years 40%); while the proportion of point mutations increased accordingly. This may reflect the repair of DNA damage and the recovery of the patient’s body. Conclusion The HPRT gene mutation exists in the body for a long time, but a noteworthy change in the gene mutation spectrum gradually occurs. The follow-up observation should continue