食管鳞状细胞癌染色体13q12-13 杂合性丢失

李　光; 张海峰; 王军梅; 徐妙生; 王全红

doi:10.3971/j.issn.1000-8578.1597

食管鳞状细胞癌染色体13q12-13 杂合性丢失

Loss of Heterozygosity on Chromosome 13q12-13 in Esophageal Squamous Cell Carcinoma

摘要

摘要: 目的分析食管鳞状细胞癌（ESCC）在13号染色体长臂12—13区（13q12—13）上的等位基因杂合性丢失（LOH），以期寻找13q12-13区上可能存在的与ESCC有关肿瘤抑制基因（TSG）的缺失区域。方法用8个位于13q12—13区的微卫星标志物，对56例ESCC患者进行PCR-LOH分析，56例ESCC患者包括34例有上消化道癌家族史，22例无上消化道癌家族史。结果 56例ESCC患者中，48例（86％）显示一个或更多位点LOH；并发现一个LOH高频率区，位于位点D13s267和D13s219之间，物理距离仅有2．83Mb；在位点D13S1242有上消化道癌家族史组LOH为68％，明显高于无上消化道癌家族史组的18％，（P=0．003）；在位点D13S289有上消化道癌家族史组LOH为82％，明显高于无上消化道癌家族史组的31％（P=0．008），有显著意义。结论研究提示染色体13q12-13的LOH可能在食管癌发生发展中起重要作用，在染色体13q12-13区上，可能存在一个或多个与ESCC发生发展有关肿瘤抑制基因（TSG）。

Abstract: Objective 　To detect the status of loss of heterozygosity (LOH) on chromosome 13q1-213 in esophageal squamous cell carcinoma ( ECCC) and determine a minium loss region of ESC related tumor suppression gene ( TSG) . Methods 　By means of laser capture microdissection, eight microstatellite markers spinning chromosome bands 13q12-13 were used to examine 56 ESCC patient s by PCR2LOH, including 34 with a family history of upper gast rointestinal cancer and 22 without a family history of cancer. Results 　The total LOH f requency is 86 % (48/ 56) . One commonly deleted region was identified :was located on band 13q 12. 3-q 13. 1, between markers D13S267 and D13S219. Two microsatellite markers (D13S1242 and D13S289 ) had a higher LOH f requency in those patient s with a family history of upper gast rointestinal cancer compared to patient s without such a history ( P < 0. 05) . Conclusion 　More than one unidentified tumor suppression genes ( TSGs) are located on chromosome arm 13q that play a role in the development of ESCC.

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