CAJ | 학술논문

目的：通过比较白血病患者与健康人群人类X射线交叉互补修复基因1（XRCC1）基因多态性和超甲基化水平，探讨XRCC1与白血病的相关性。方法利用限制性片段长度多态性聚合酶链反应（PCR‐RFLP）和甲基化特异聚合酶联反应（MSP）的方法检测150例白血病患者（病例组）和150例健康体检者（对照组）XRCC1基因多态性和启动子区超甲基化水平。结果在各型白血病中XRCC1基因rs1799782、rs25487、rs25489位点基因型有不同程度的变化。病例组各亚组的XRCC1基因超甲基化阳性率与对照组比较，差异均无统计学意义（P＞0．05）。结论多态性位点基因型分布及等位基因频率和白血病易感有一定的相关性，但XRCC1基因在白血病中可能不存在超甲基化现象。
목적：통과비교백혈병환자여건강인군인류X사선교차호보수복기인1（XRCC1）기인다태성화초갑기화수평，탐토XRCC1여백혈병적상관성。방법이용한제성편단장도다태성취합매련반응（PCR‐RFLP）화갑기화특이취합매련반응（MSP）적방법검측150례백혈병환자（병례조）화150례건강체검자（대조조）XRCC1기인다태성화계동자구초갑기화수평。결과재각형백혈병중XRCC1기인rs1799782、rs25487、rs25489위점기인형유불동정도적변화。병례조각아조적XRCC1기인초갑기화양성솔여대조조비교，차이균무통계학의의（P＞0．05）。결론다태성위점기인형분포급등위기인빈솔화백혈병역감유일정적상관성，단XRCC1기인재백혈병중가능불존재초갑기화현상。
Objective To investigate whether XRCC1 was associated with the occurrence of leukemia through the comparison of XRCC1 gene′s polymorphism and hypermethylation between leukemia patients and healthy people .Methods Restriction fragment length polymorphism polymerase chain reaction (PCR‐RFLP) and methylation specific polymerase chain reaction(MSP) were used to detect the polymorphism and promoter region′s methylation of XRCC1 gene in 150 patients with leukemia(patients group) and 150 healthy persons (control group) .Results In different types of leukemia patients ,the genotype of XRCC1 gene loci rs1799782 , rs25487 and rs25489 loci changed in different degrees .The positive rate of XRCC1 gene methylation in different subgroups of pa‐tients group were not statistically significantly different from that of control group(P>0 .05) .Conclusion Genotype distribution and allele frequency and leukemia susceptible have some correlation ,but hypermethylation phenomenon may not exist in XRCC1 gene in leukemia .