CAJ | 학술논문

目的构建鼻咽癌染色体1pter-p36.11(63.4 cM)区域内的杂合性缺失精细图谱，为进一步寻找鼻咽癌相关基因提供依据。方法在比较基因组杂交和间期荧光原位杂交研究基础上，应用淋巴分离液将肿瘤组织的肿瘤细胞与淋巴细胞分离并以淋巴细胞DNA作相应正常对照，利用1pter-p36.11区域内的20个微卫星多态位点(平均间距3 cM)对47例鼻咽癌活检组织用杂合性缺失(LOH)分析法进行LOH分析并绘制其精细缺失图谱。结果在47例鼻咽癌患者中，至少有一个位点存在LOH的有37例(82.2%)，其中LOH频率最高的为D1S234(50.0%)，位于 1p36.13，其次为D1S2644(37.5%)，位于1p36.22；微卫星不稳定频率最高的为D1S243(37 .5 %)，位于1p36.33，其次为D1S199(30.2%)，位于1p36.21；D1S234的LOH及D1S199的MI与临床分期相关无显著性意义（P>0.05）。结论鼻咽癌染色体1pte r-p36.11之间63.4 cM区域内有两个共同的缺失区，分别位于1p36.13(D1S234，2.0 cM)与1p36.22(D1S436-D1S2644 ，6.3 cM),其间有一个微卫星不稳定位点D1S199，D1S436-D1S199-D1S234区域内可能有一个或几个在早期与鼻咽癌形成相关的肿瘤抑制基因。
목적구건비인암염색체1pter-p36.11(63.4 cM)구역내적잡합성결실정세도보，위진일보심조비인암상관기인제공의거。방법재비교기인조잡교화간기형광원위잡교연구기출상，응용림파분리액장종류조직적종류세포여림파세포분리병이림파세포DNA작상응정상대조，이용1pter-p36.11구역내적20개미위성다태위점(평균간거3 cM)대47례비인암활검조직용잡합성결실(LOH)분석법진행LOH분석병회제기정세결실도보。결과재47례비인암환자중，지소유일개위점존재LOH적유37례(82.2%)，기중LOH빈솔최고적위D1S234(50.0%)，위우 1p36.13，기차위D1S2644(37.5%)，위우1p36.22；미위성불은정빈솔최고적위D1S243(37 .5 %)，위우1p36.33，기차위D1S199(30.2%)，위우1p36.21；D1S234적LOH급D1S199적MI여림상분기상관무현저성의의（P>0.05）。결론비인암염색체1pte r-p36.11지간63.4 cM구역내유량개공동적결실구，분별위우1p36.13(D1S234，2.0 cM)여1p36.22(D1S436-D1S2644 ，6.3 cM),기간유일개미위성불은정위점D1S199，D1S436-D1S199-D1S234구역내가능유일개혹궤개재조기여비인암형성상관적종류억제기인。
Objective　 To construct a detailed mapping of the Chromosome 1pter-p 36.11 deleted region (63.4 cM) in nasopharyngeal carcinoma (NPC) by polymerase c hain reaction-loss of hetrozygosity (PCR-LOH) analysis for the further researc h of NPC-related gene(s). Methods　 Biopsies from 47 cases of NPC patients were studied. DNA extracted from separated cancer cells and their corresponding non- c ancer lymphocytes were amplified with PCR,followed by the analysis of LOH and mi crosatellite instability (MI) for 20 loci spanning Chromosome 1pter-p36.11 regi on with an average interval of 3.0 cM. Results　 82.2% of NPC cases (37/47) showe d at least one loci of LOH. The highest frequency of LOH was found at loci D1S23 4 on 1p36.13 (50.0%), with the LOH at loci D1S2644 on 1p36.22 slightly less (37. 5%). The occurrence of LOH at D1S234 showed no significant difference for the ca ses at early stage and at advanced stage ［60% (9/15) vs 50.0% (8/16) respective ly, P>0.05］. High frequencies of MI were detected at D1S243 on 1p36.33 (37 .5%) and D1S199 on 1p36.21 (30.2%). Conclusions　 There are two common deletion regio ns: one localized at 1p36.13 (D1S234, 2.0 cM) and the other at 1p36.22 (D1S436- D 1S2644, 6.3 cM), with a MI loci at D1S199 between them. This suggests that one or more putative tumor suppressor gene(s) related to the early stage of NPC tumo rigenesis may be encompassed in this zone.