• 1.山東省立醫(yī)院普外科(濟(jì)南250021)2.上海市第一人民醫(yī)院普外科(上海200080);

目的 　研究散發(fā)性結(jié)直腸癌7號(hào)染色體雜合性缺失,對(duì)7q21－22區(qū)精細(xì)定位,尋找新的結(jié)直腸癌抑癌基因。
方法 　采用15對(duì)微衛(wèi)星DNA標(biāo)記7號(hào)染色體,在高頻雜合缺失區(qū)另取5對(duì)微衛(wèi)星標(biāo)記對(duì)83例結(jié)直腸癌病例的腫瘤和正常組織進(jìn)行PCR反應(yīng)。PCR產(chǎn)物在ABI Prism 377自動(dòng)熒光測(cè)序儀進(jìn)行電泳3 h，以GeneScan 3.1和Genotyper 2.1軟件進(jìn)行基因分型。
結(jié)果 　在7號(hào)染色體上發(fā)現(xiàn)1個(gè)高頻雜合缺失區(qū)即7q21－22區(qū)。對(duì)該區(qū)再用5對(duì)微衛(wèi)星標(biāo)記引物行精細(xì)定位，界定了1個(gè)跨越D7S657、D7S646位點(diǎn)精細(xì)的高頻雜合缺失區(qū)域。
結(jié)論 　通過精細(xì)雜合缺失作圖的研究，在7號(hào)染色體發(fā)現(xiàn)了1個(gè)跨越D7S657、D7S646位點(diǎn)的精細(xì)雜合缺失區(qū)，該區(qū)很可能存在1個(gè)或多個(gè)與結(jié)直腸癌相關(guān)的新的抑癌基因。

引用本文： 許世峰,徐延田,彭志海. 散發(fā)性結(jié)直腸癌染色體7q21－22區(qū)雜合性缺失精細(xì)定位. 中國(guó)普外基礎(chǔ)與臨床雜志, 2008, 15(9): 637-641. doi: 復(fù)制

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4. 　Xiao XY, Zhou XY, Yan G, et al. Chromosomal alteration in Chinese sporadic colorectal carcinomas detected by comparative genomic hybridization [Ｊ]. Diagn Mol Pathol, 2007; 16(2)∶96.
5. 　van Dieren JM, Wink JC, Vissers KJ, et al. Chromosomal and microsatellite instability of adenocarcinomas and dysplastic lesions (DALM) in ulcerative colitis [J]. Diagn Mol Pathol, 2006; 15(4)∶216.
6. 　Pinto AE, Roque L, Rodrigues R, et al. Frequent 7q gains in flow cytometric multiploid/hypertetraploid breast carcinomas: a study of chromosome imbalances by comparative genomic hybridisation [Ｊ]. J Clin Pathol, 2006; 59(4)∶367.
7. 　Goodison S, Viars C, Urquidi V. Molecular cytogenetic analysis of a human breast metastasis model: identification of phenotypespecific chromosomal rearrangements [Ｊ]. Cancer Genet Cytogenet, 2005; 156(1)∶37.
8. 　Hasle H, Alonzo TA, Auvrignon A, et al. Monosomy 7 and deletion 7q in children and adolescents with acute myeloid leukemia: an international retrospective study [Ｊ]. Blood, 2007; 109(11)∶4641.
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10. 　Trovato M, Ulivieri A, Dominici R, et al. Clinicopathological significance of celltypespecific loss of heterozygosity on chromosome 7q21: analysis of 318 microdissected thyroid lesions [Ｊ]. Endocr Relat Cancer, 2004; 11(2)∶365.
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12. 　Vanharanta S, Wortham NC, Langford C, et al. Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tilingpath microarray CGH and mutation analysis of known genes in this region [Ｊ]. Genes Chromosomes Cancer, 2007; 46(5)∶451.
13. 　Neville PJ, Thomas N, Campbell IG. Loss of heterozygosity at 7q22 and mutation analysis of the CDP gene in human epithelial ovarian tumors [Ｊ]. Int J Cancer, 2001; 91(3)∶345.
14. 　Xia JC, Weng DS, Li JT, et al. Loss of heterozygosity analysis of a candidate gastric carcinoma tumor suppressor locus at 7q31 [Ｊ]. Cancer Genet Cytogenet, 2006; 166(2)∶166.
15. 　Chêne L, Giroud C, Desgrandchamps F, et al. Extensive analysis of the 7q31 region in human prostate tumors supports TES as the best candidate tumor suppressor gene [Ｊ]. Int J Cancer, 2004; 111(5)∶798.
16. 　Forozan F, Veldman R, Ammerman CA, et al. Molecular cytogenetic analysis of 11 new breast cancer cell lines [Ｊ]. Br J Cancer, 1999; 81(8)∶1328.
17. 　Hidalgo A, Monroy A, Arana RM, et al. Chromosomal imbalances in four new uterine cervix carcinoma derived cell lines [Ｊ]. BMC Cancer, 2003; 3(1)∶8.
18. 　Wang Z, Shu W, Lu MM, et al. Wnt7b activates canonical signaling in epithelial and vascular smooth muscle cells through interactions with Fzd1, Fzd10, and LRP5 [Ｊ]. Mol Cell Biol, 2005; 25(12)∶5022.
19. 　何渝軍， 何雙梧， 付濤. 大腸癌組織胃泌素與cmyc、cfos表達(dá)的關(guān)系 [Ｊ]. 中國(guó)普外基礎(chǔ)與臨床雜志, 2001; 8(1)∶15.
20. 　文亞淵， 劉寶華， 洪勝龍， 等. 凋亡相關(guān)基因survivin、caspase3及cyclinB1在胃癌發(fā)生、發(fā)展中的作用 [Ｊ]. 中國(guó)普外基礎(chǔ)與臨床雜志, 2006; 13(1)∶34.
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22. 　Li Y, Asuri S, Rebhun JF, et al. The RAP1 guanine nucleotide exchange factor Epac2 couples cyclic AMP and Ras signals at the plasma membrane [Ｊ]. J Biol Chem, 2006; 281(5)∶2506.
  1. 1. 　彭志海, 凌云, 周崇治, 等. 散發(fā)性結(jié)直腸癌3號(hào)染色體等位基因雜合缺失 [J]. 中華醫(yī)學(xué)雜志, 2001; 81(6)∶336.
  2. 2. 　駱成玉， 祝學(xué)光， 李世擁, 等. nm23H1基因雜合性缺失及突變與大腸癌轉(zhuǎn)移抑制 [J]. 中國(guó)普外基礎(chǔ)與臨床雜志, 1999； 6(3)∶143.
  3. 3. 　Fornasarig M, Viel A, Bidoli E, et al. Amsterdam criteria Ⅱ and endometrial cancer index cases for an accurate selection of HNPCC families [J]. Tumori, 2002; 88(1)∶18.
  4. 4. 　Xiao XY, Zhou XY, Yan G, et al. Chromosomal alteration in Chinese sporadic colorectal carcinomas detected by comparative genomic hybridization [Ｊ]. Diagn Mol Pathol, 2007; 16(2)∶96.
  5. 5. 　van Dieren JM, Wink JC, Vissers KJ, et al. Chromosomal and microsatellite instability of adenocarcinomas and dysplastic lesions (DALM) in ulcerative colitis [J]. Diagn Mol Pathol, 2006; 15(4)∶216.
  6. 6. 　Pinto AE, Roque L, Rodrigues R, et al. Frequent 7q gains in flow cytometric multiploid/hypertetraploid breast carcinomas: a study of chromosome imbalances by comparative genomic hybridisation [Ｊ]. J Clin Pathol, 2006; 59(4)∶367.
  7. 7. 　Goodison S, Viars C, Urquidi V. Molecular cytogenetic analysis of a human breast metastasis model: identification of phenotypespecific chromosomal rearrangements [Ｊ]. Cancer Genet Cytogenet, 2005; 156(1)∶37.
  8. 8. 　Hasle H, Alonzo TA, Auvrignon A, et al. Monosomy 7 and deletion 7q in children and adolescents with acute myeloid leukemia: an international retrospective study [Ｊ]. Blood, 2007; 109(11)∶4641.
  9. 9. 　Smith AG, Worrillow LJ, Allan JM. A common genetic variant in XPD associates with risk of 5q and 7qdeleted acute myeloid leukemia [Ｊ]. Blood, 2007; 109(3)∶1233.
  10. 10. 　Trovato M, Ulivieri A, Dominici R, et al. Clinicopathological significance of celltypespecific loss of heterozygosity on chromosome 7q21: analysis of 318 microdissected thyroid lesions [Ｊ]. Endocr Relat Cancer, 2004; 11(2)∶365.
  11. 11. 　Trovato M, Fraggetta F, Villari D, et al. Loss of heterozygosity of the long arm of chromosome 7 in follicular and anaplastic thyroid cancer, but not in papillary thyroid cancer [Ｊ]. J Clin Endocrinol Metab, 1999; 84(9)∶3235.
  12. 12. 　Vanharanta S, Wortham NC, Langford C, et al. Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tilingpath microarray CGH and mutation analysis of known genes in this region [Ｊ]. Genes Chromosomes Cancer, 2007; 46(5)∶451.
  13. 13. 　Neville PJ, Thomas N, Campbell IG. Loss of heterozygosity at 7q22 and mutation analysis of the CDP gene in human epithelial ovarian tumors [Ｊ]. Int J Cancer, 2001; 91(3)∶345.
  14. 14. 　Xia JC, Weng DS, Li JT, et al. Loss of heterozygosity analysis of a candidate gastric carcinoma tumor suppressor locus at 7q31 [Ｊ]. Cancer Genet Cytogenet, 2006; 166(2)∶166.
  15. 15. 　Chêne L, Giroud C, Desgrandchamps F, et al. Extensive analysis of the 7q31 region in human prostate tumors supports TES as the best candidate tumor suppressor gene [Ｊ]. Int J Cancer, 2004; 111(5)∶798.
  16. 16. 　Forozan F, Veldman R, Ammerman CA, et al. Molecular cytogenetic analysis of 11 new breast cancer cell lines [Ｊ]. Br J Cancer, 1999; 81(8)∶1328.
  17. 17. 　Hidalgo A, Monroy A, Arana RM, et al. Chromosomal imbalances in four new uterine cervix carcinoma derived cell lines [Ｊ]. BMC Cancer, 2003; 3(1)∶8.
  18. 18. 　Wang Z, Shu W, Lu MM, et al. Wnt7b activates canonical signaling in epithelial and vascular smooth muscle cells through interactions with Fzd1, Fzd10, and LRP5 [Ｊ]. Mol Cell Biol, 2005; 25(12)∶5022.
  19. 19. 　何渝軍， 何雙梧， 付濤. 大腸癌組織胃泌素與cmyc、cfos表達(dá)的關(guān)系 [Ｊ]. 中國(guó)普外基礎(chǔ)與臨床雜志, 2001; 8(1)∶15.
  20. 20. 　文亞淵， 劉寶華， 洪勝龍， 等. 凋亡相關(guān)基因survivin、caspase3及cyclinB1在胃癌發(fā)生、發(fā)展中的作用 [Ｊ]. 中國(guó)普外基礎(chǔ)與臨床雜志, 2006; 13(1)∶34.
  21. 21. 　Duncan TJ, Watson NF, AlAttar AH, et al. The role of MUC1 and MUC3 in the biology and prognosis of colorectal cancer [Ｊ]. World J Surg Oncol, 2007; 9(5)∶31.
  22. 22. 　Li Y, Asuri S, Rebhun JF, et al. The RAP1 guanine nucleotide exchange factor Epac2 couples cyclic AMP and Ras signals at the plasma membrane [Ｊ]. J Biol Chem, 2006; 281(5)∶2506.