中华医学杂志
中華醫學雜誌
중화의학잡지
National Medical Journal of China
2008年
37期
2636-2641
,共6页
张旭%朱志华%林鹏%杨弘%傅剑华%张兰军%龙浩%文静%黄晓平%方嬿%戎铁华
張旭%硃誌華%林鵬%楊弘%傅劍華%張蘭軍%龍浩%文靜%黃曉平%方嬿%戎鐵華
장욱%주지화%림붕%양홍%부검화%장란군%룡호%문정%황효평%방연%융철화
食管不典型增生%食管癌%SNP芯片%DNA拷贝数%LOH
食管不典型增生%食管癌%SNP芯片%DNA拷貝數%LOH
식관불전형증생%식관암%SNP심편%DNA고패수%LOH
Esophageal atypical hyperplasia%Esophageal carcinoma%SNP array%DNA copy number%LOH
目的 应用SNP芯片检测食管不典型增生和早期食管鳞癌全基因组的DNA拷贝数异常和杂合性缺失(LOH),探讨它们的变化特征.方法 应用Affymetrix GeneChip Human Mapping250K NspArray芯片检测1例原发性食管重度不典型增生和4例原发性早期食管鳞癌病变组织和配对正常食管组织的DNA拷贝数的变化和LOH.结果 食管重度不典型增生只有极少数的DNA片段发生扩增,未发生缺失或LOH.早期食管鳞癌发生DNA扩增的染色体有1p、1q、2p、2q、3q、4q、5p、6p、6q、7q、8q、11p、11q、12p、12q、14q、17q、18p、19q、20q、22q和X;发生DNA缺失的染色体有1p、2q、3p、3q、4p、4q、8p、9p、9q、10q、11p、13q、16p、18q、19p、19q和22q;发生LOH的染色体有3q和9q.其中1p、19q、4q、11p等染色体发生扩增和3q、11p、2q、16p等染色体发生缺失罕见报道.结论 食管重度不典型增生DNA的变异不明显;早期食管鳞癌DNA发生明显的扩增和缺失,但很少发生LOH.250K SNP芯片能够有效地检测食管不典型增生和早期食管鳞癌全基因组范围DNA拷贝数的变化及LOH,分辨率高,定位精确,这些结果为进一步定位筛选和克隆与早期食管鳞癌相关的基因提供了重要的理论信息.
目的 應用SNP芯片檢測食管不典型增生和早期食管鱗癌全基因組的DNA拷貝數異常和雜閤性缺失(LOH),探討它們的變化特徵.方法 應用Affymetrix GeneChip Human Mapping250K NspArray芯片檢測1例原髮性食管重度不典型增生和4例原髮性早期食管鱗癌病變組織和配對正常食管組織的DNA拷貝數的變化和LOH.結果 食管重度不典型增生隻有極少數的DNA片段髮生擴增,未髮生缺失或LOH.早期食管鱗癌髮生DNA擴增的染色體有1p、1q、2p、2q、3q、4q、5p、6p、6q、7q、8q、11p、11q、12p、12q、14q、17q、18p、19q、20q、22q和X;髮生DNA缺失的染色體有1p、2q、3p、3q、4p、4q、8p、9p、9q、10q、11p、13q、16p、18q、19p、19q和22q;髮生LOH的染色體有3q和9q.其中1p、19q、4q、11p等染色體髮生擴增和3q、11p、2q、16p等染色體髮生缺失罕見報道.結論 食管重度不典型增生DNA的變異不明顯;早期食管鱗癌DNA髮生明顯的擴增和缺失,但很少髮生LOH.250K SNP芯片能夠有效地檢測食管不典型增生和早期食管鱗癌全基因組範圍DNA拷貝數的變化及LOH,分辨率高,定位精確,這些結果為進一步定位篩選和剋隆與早期食管鱗癌相關的基因提供瞭重要的理論信息.
목적 응용SNP심편검측식관불전형증생화조기식관린암전기인조적DNA고패수이상화잡합성결실(LOH),탐토타문적변화특정.방법 응용Affymetrix GeneChip Human Mapping250K NspArray심편검측1례원발성식관중도불전형증생화4례원발성조기식관린암병변조직화배대정상식관조직적DNA고패수적변화화LOH.결과 식관중도불전형증생지유겁소수적DNA편단발생확증,미발생결실혹LOH.조기식관린암발생DNA확증적염색체유1p、1q、2p、2q、3q、4q、5p、6p、6q、7q、8q、11p、11q、12p、12q、14q、17q、18p、19q、20q、22q화X;발생DNA결실적염색체유1p、2q、3p、3q、4p、4q、8p、9p、9q、10q、11p、13q、16p、18q、19p、19q화22q;발생LOH적염색체유3q화9q.기중1p、19q、4q、11p등염색체발생확증화3q、11p、2q、16p등염색체발생결실한견보도.결론 식관중도불전형증생DNA적변이불명현;조기식관린암DNA발생명현적확증화결실,단흔소발생LOH.250K SNP심편능구유효지검측식관불전형증생화조기식관린암전기인조범위DNA고패수적변화급LOH,분변솔고,정위정학,저사결과위진일보정위사선화극륭여조기식관린암상관적기인제공료중요적이론신식.
Objective To detect DNA copy number abnormality and LOH and explore the profile ofchromosomal imbalances in esophageal atypical hyperplasia and early stage esophageal squamous cellcarcinoma using SNP array. Methods The DNA copy number abnormality and LOH in pathological changeesophageal tissue and matched normal esophageal tissue of one case of primary esophageal high atypicalhyperplasia and four cases of primary early stage esophageal squamous cell carcinoma were detected by usingAffymetrix GeneChip Human Mapping 250K NspArray. Results Amplification was found in a few DNAfragment and no deletion or LOH was found in esophageal high atypical hyperplasia. In early stageesophageal squamous cell carcinoma , DNA amplification occurred in 1p, 1q, 2p, 2q, 3q, 4q, 5p, 6p,6q, 7q, 8q, 11p,11q, 12p, 12q, 14q, 17q, 18p, 19q, 20q, 22q and X chromosome. DNA deletionoccurred in 1p, 2q, 3p, 3q, 4p, 4q, 8p, 9p, 9q, 10q, 11p, 13q, 16p, 18q, 19p, 19q and 22qchromosome. LOH occurred in 3q and 9q chromosome. The amplification in 1p, 19q, 4q, 11p chromosomeand the deletion in 3q, 11p, 2q, 16p chromosome were rarely reported. Conclusion DNA abnormality wasrare in esophageal high atypical hyperplasia. The obvious amplification and deletion in DNA have been foundin early stage esophageal squamous cell carcinoma, but LOH was rarely found. 250K SNP array couldeffectively detect DNA copy number change and LOH in whole-wide genes in esophageal atypical hyperplasiaand early stage esophageal squamous cell carcinoma with high distinguishability and precise location. Theresults would provide important academic information for detection and location of related genes in early stageesophageal squamous cell carcinoma.
