癌变·畸变·突变
癌變·畸變·突變
암변·기변·돌변
CARCINOGENSES,TERATOGENSIS AND MUTAGENESIS
2009年
6期
435-438
,共4页
杨柳%朱明%陈森清%HONG Tao%张元颖%马国建%李金田%张晓梅%Haruhiko Sugimura%周建农
楊柳%硃明%陳森清%HONG Tao%張元穎%馬國建%李金田%張曉梅%Haruhiko Sugimura%週建農
양류%주명%진삼청%HONG Tao%장원영%마국건%리금전%장효매%Haruhiko Sugimura%주건농
MYH/MutY homologue%MAP%变异%散发%结直肠癌
MYH/MutY homologue%MAP%變異%散髮%結直腸癌
MYH/MutY homologue%MAP%변이%산발%결직장암
MYH/MutY homologue%MAP%variation%sporadic colorectal cancer
背景与目的:初步探讨MYH(MutY homologue,MYH)基因的变异与散发性大肠癌发病风险的关系.材料与方法:应用变性高效液相色谱(denaturing high performance liquid chromatography,DHPLC)和测序技术,对140例大肠癌患者及280名正常对照人群的MYH基因16个外显子区域中的7个(外显子1、7、9、11、13、14和16)区域进行变异筛查,用SPSS统计软件进行数据分析.结果:Exon 1区域的变异位点为Exonl-316 G>A、Exon1-292 G>A和Intron1+11 C>T,3者同时出现在所有变异样本中,且病例组变异危险性均为对照组的8.16倍(P=0.04;OR=8.16,95%C/为1.01～203.70);Exon16区域的变异为nt 1678-80 del GTT,病例组中直肠癌患者的变异危险性为结肠癌患者的7.18倍(P=0.04;OR=7.18,95%C/为1.102～165);Exon 11区域查出4例Intron10-2 A>G变异;Exon 13区域筛查出2例Intron13+12 C>T变异;Exon 14区域筛查出1种错义变异,即Exon14+74 T>A,p.V463E;Exon 7和Exon 9区域未筛查出任何变异. 结论:MYH变异可能会增加结直肠癌发病风险,应进行监测管理;未筛查到高加索人群中最常见的Exon7区域的变异,提示人种之间变异存在差别.
揹景與目的:初步探討MYH(MutY homologue,MYH)基因的變異與散髮性大腸癌髮病風險的關繫.材料與方法:應用變性高效液相色譜(denaturing high performance liquid chromatography,DHPLC)和測序技術,對140例大腸癌患者及280名正常對照人群的MYH基因16箇外顯子區域中的7箇(外顯子1、7、9、11、13、14和16)區域進行變異篩查,用SPSS統計軟件進行數據分析.結果:Exon 1區域的變異位點為Exonl-316 G>A、Exon1-292 G>A和Intron1+11 C>T,3者同時齣現在所有變異樣本中,且病例組變異危險性均為對照組的8.16倍(P=0.04;OR=8.16,95%C/為1.01～203.70);Exon16區域的變異為nt 1678-80 del GTT,病例組中直腸癌患者的變異危險性為結腸癌患者的7.18倍(P=0.04;OR=7.18,95%C/為1.102～165);Exon 11區域查齣4例Intron10-2 A>G變異;Exon 13區域篩查齣2例Intron13+12 C>T變異;Exon 14區域篩查齣1種錯義變異,即Exon14+74 T>A,p.V463E;Exon 7和Exon 9區域未篩查齣任何變異. 結論:MYH變異可能會增加結直腸癌髮病風險,應進行鑑測管理;未篩查到高加索人群中最常見的Exon7區域的變異,提示人種之間變異存在差彆.
배경여목적:초보탐토MYH(MutY homologue,MYH)기인적변이여산발성대장암발병풍험적관계.재료여방법:응용변성고효액상색보(denaturing high performance liquid chromatography,DHPLC)화측서기술,대140례대장암환자급280명정상대조인군적MYH기인16개외현자구역중적7개(외현자1、7、9、11、13、14화16)구역진행변이사사,용SPSS통계연건진행수거분석.결과:Exon 1구역적변이위점위Exonl-316 G>A、Exon1-292 G>A화Intron1+11 C>T,3자동시출현재소유변이양본중,차병례조변이위험성균위대조조적8.16배(P=0.04;OR=8.16,95%C/위1.01～203.70);Exon16구역적변이위nt 1678-80 del GTT,병례조중직장암환자적변이위험성위결장암환자적7.18배(P=0.04;OR=7.18,95%C/위1.102～165);Exon 11구역사출4례Intron10-2 A>G변이;Exon 13구역사사출2례Intron13+12 C>T변이;Exon 14구역사사출1충착의변이,즉Exon14+74 T>A,p.V463E;Exon 7화Exon 9구역미사사출임하변이. 결론:MYH변이가능회증가결직장암발병풍험,응진행감측관리;미사사도고가색인군중최상견적Exon7구역적변이,제시인충지간변이존재차별.
BACKGROUND AND AIM: To investigate the association between the MYH(MutY homologue) genovariation and colorectal cancer risk. MATERIALS AND METHODS: Denaturing high performance liquid chromatography (DHPLC) and DNA sequencing were used to delineate the variants in 7 of 16 exon-districts in the 140 colorectal cancer patients and 280 controls. All data was analyzed by SPSS software. RESULTS:Four genovariation sites, Exonl-316 G> A, Exon 1-292 G > A and Intron 1+11 C>T, in exon 1 district were detected in all variants of cases and controls simultaneouly. The variation frequency in cases was significantly higher than that in controls, genovariation risk in cases was 8.16-fold more than controls(P = 0.04; OR = 8.16, 95% CI = 1.01 ～ 203.70) . A missense variation, Exonl4 + 74 T> A, p.V463E, was found in exon 14. A deletion variation, nt 1678-80 del GTT, was found in exon 16. In cases, the rectal cancer genovariation frequency was higher than colon cancer, variation risk in the former was 7.18-fold more than the latter (P = 0.04; OR = 7.18,95% CI = 1.102- 165). CONCLUSION: MYH variation may function as a risk factor for colorectal cancer development. Most patients had rectal cancer. Similar to other Asian races, the MYH variant frequency in Chinese is lower than Caucasian.No variant is found in and around Exon 7 which is one of the most frequently mutated exons in Caucasians. This indicates that the differences of MYH variants may be related to racial differences.
