国际检验医学杂志
國際檢驗醫學雜誌
국제검험의학잡지
INTERNATIONAL JOURNAL OF LABORATORY MEDICINE
2014年
15期
1979-1980,1983
,共3页
王小英%周代锋%陈勇%孟津%蔡望伟
王小英%週代鋒%陳勇%孟津%蔡望偉
왕소영%주대봉%진용%맹진%채망위
结直肠癌%基因%聚合酶链反应
結直腸癌%基因%聚閤酶鏈反應
결직장암%기인%취합매련반응
colorectal cancer%genes%polymerase chain reaction
目的：分析人外周血白细胞hMSH2基因mRNA外显子13缺失及hMSH2基因ISV12（-6）T＞C多态性与散发性结直肠癌的相关性。方法应用RT-PCR技术及PCR技术分别扩增hMSH2基因mRNA和hMSH2基因外显子13，用DNA测序技术测定扩增的hMSH2 cDNA序列、IVS12（-6）T＞C多态性和外显子13序列。结果23例结直肠癌样本hMSH2 mRNA均出现外显子13缺失的转录本，35例健康对照样本中31例出现hMSH2 mRNA外显子13缺失转录本，频率分别为100．0％和88．6％（P＞0．05）。23例结直肠癌患者及35例正常对照样本均未发现基因组hMSH2基因外显子13缺失，16例子结直肠癌样本及19例健康对照样本检出ISV12（-6）T＞C位点突变，频率分别为69．5％和52．3％（P＞0．05）。结论外周血白细胞hMSH2基因mRNA外显子13缺失及IVS12（-6）T＞C多态性是人群中是常见的变异，与散发性结直肠癌无相关性，剪接位点ISV12（-6） T＞C变异不是导致hMSH2基因mRNA外显子13缺失的原因。
目的：分析人外週血白細胞hMSH2基因mRNA外顯子13缺失及hMSH2基因ISV12（-6）T＞C多態性與散髮性結直腸癌的相關性。方法應用RT-PCR技術及PCR技術分彆擴增hMSH2基因mRNA和hMSH2基因外顯子13，用DNA測序技術測定擴增的hMSH2 cDNA序列、IVS12（-6）T＞C多態性和外顯子13序列。結果23例結直腸癌樣本hMSH2 mRNA均齣現外顯子13缺失的轉錄本，35例健康對照樣本中31例齣現hMSH2 mRNA外顯子13缺失轉錄本，頻率分彆為100．0％和88．6％（P＞0．05）。23例結直腸癌患者及35例正常對照樣本均未髮現基因組hMSH2基因外顯子13缺失，16例子結直腸癌樣本及19例健康對照樣本檢齣ISV12（-6）T＞C位點突變，頻率分彆為69．5％和52．3％（P＞0．05）。結論外週血白細胞hMSH2基因mRNA外顯子13缺失及IVS12（-6）T＞C多態性是人群中是常見的變異，與散髮性結直腸癌無相關性，剪接位點ISV12（-6） T＞C變異不是導緻hMSH2基因mRNA外顯子13缺失的原因。
목적：분석인외주혈백세포hMSH2기인mRNA외현자13결실급hMSH2기인ISV12（-6）T＞C다태성여산발성결직장암적상관성。방법응용RT-PCR기술급PCR기술분별확증hMSH2기인mRNA화hMSH2기인외현자13，용DNA측서기술측정확증적hMSH2 cDNA서렬、IVS12（-6）T＞C다태성화외현자13서렬。결과23례결직장암양본hMSH2 mRNA균출현외현자13결실적전록본，35례건강대조양본중31례출현hMSH2 mRNA외현자13결실전록본，빈솔분별위100．0％화88．6％（P＞0．05）。23례결직장암환자급35례정상대조양본균미발현기인조hMSH2기인외현자13결실，16례자결직장암양본급19례건강대조양본검출ISV12（-6）T＞C위점돌변，빈솔분별위69．5％화52．3％（P＞0．05）。결론외주혈백세포hMSH2기인mRNA외현자13결실급IVS12（-6）T＞C다태성시인군중시상견적변이，여산발성결직장암무상관성，전접위점ISV12（-6） T＞C변이불시도치hMSH2기인mRNA외현자13결실적원인。
Objective To investigate the correlation between the deletion of exon 13 of hMSH2 mRNA in peripheral blood leu-kocyte and ISV12(-6) T>C polymorphism with sporadic colorectal cancer .Methods Total RNA and genomic DNA were extracted from peripheral blood of colorectal cancer patients and healthy controls .RT-PCR and PCR were used to amplified the mRNA and exon 13 of hMSH2 gene .The sequences of amplified hMSH2 cDNA ,ISV12(-6) T>C polymorphism and exon 13 sequence were confirmed by DNA sequencing .Results 23 of 23 (100% ) patients and 31 of 35 controls (88 .6% ,P>0 .05) were found to have an hMSH2 truncated transcript caused by a deletion of exon 13 .No deletions of exon 13 in hMSH2 gene were identified in genomic DNA .16 of 23 patients (69 .5% ) and 19 of 35 control (52 .3% ,P>0 .05) were found to have the T >C transition six bases up-stream of exon 13 of hMSH2 .Conclusion Deletion of hMSH2 mRNA exon 13 in peripheral blood leukocyte and the ISV12(-6) T>C polymorphism are common variants in population and have no correlation with sporadic colorectal cancer .The variant of splice site ISV12(-6)T>C is not a reason causing the deletion of hMSH2 mRNA exon 13 .
