中华医学杂志
中華醫學雜誌
중화의학잡지
National Medical Journal of China
2011年
14期
973-976
,共4页
杨越%贺军栋%郭学君%车艳华%张勇%李立
楊越%賀軍棟%郭學君%車豔華%張勇%李立
양월%하군동%곽학군%차염화%장용%리립
乳腺肿瘤%DNA,线粒体%基因组%体细胞突变
乳腺腫瘤%DNA,線粒體%基因組%體細胞突變
유선종류%DNA,선립체%기인조%체세포돌변
Breast noeplasms%DNA,mitochondrial%Genome%Somatic mutation
目的 基于线粒体DNA(mtDNA)的全基因组信息研究体细胞突变与乳腺肿瘤发生的相关性.方法 对来自云南省昆明市第一人民医院乳腺科2009年8-12月收治的4例乳腺纤维腺瘤患者的肿瘤组织及外周血mtDNA全基因组序列进行聚合酶链反应(PCR)扩增及DNA测序,比较其突变分布差异,揭示可能存在的肿瘤组织特有的体细胞突变.结果 研究获得了患者肿瘤组织mtDNA全基因组的突变图谱,并构建了系统发育关系树,结果揭示,4例患者的mtDNA分别归属为单倍型类群D4i、G1、R9b及N9a.通过在外周血mtDNA中检测肿瘤样本中发现的私有突变,研究显示仅在单倍型类群归属为R9b的患者中存在16292位置的体细胞变异.结论 基于4例良性乳腺肿瘤患者的肿瘤组织的mtDNA全基因组信息,仅发现1个mtDNA控制区体细胞变异,未能发现存在于mtDNA编码区中的可能具有功能性的体细胞突变.
目的 基于線粒體DNA(mtDNA)的全基因組信息研究體細胞突變與乳腺腫瘤髮生的相關性.方法 對來自雲南省昆明市第一人民醫院乳腺科2009年8-12月收治的4例乳腺纖維腺瘤患者的腫瘤組織及外週血mtDNA全基因組序列進行聚閤酶鏈反應(PCR)擴增及DNA測序,比較其突變分佈差異,揭示可能存在的腫瘤組織特有的體細胞突變.結果 研究穫得瞭患者腫瘤組織mtDNA全基因組的突變圖譜,併構建瞭繫統髮育關繫樹,結果揭示,4例患者的mtDNA分彆歸屬為單倍型類群D4i、G1、R9b及N9a.通過在外週血mtDNA中檢測腫瘤樣本中髮現的私有突變,研究顯示僅在單倍型類群歸屬為R9b的患者中存在16292位置的體細胞變異.結論 基于4例良性乳腺腫瘤患者的腫瘤組織的mtDNA全基因組信息,僅髮現1箇mtDNA控製區體細胞變異,未能髮現存在于mtDNA編碼區中的可能具有功能性的體細胞突變.
목적 기우선립체DNA(mtDNA)적전기인조신식연구체세포돌변여유선종류발생적상관성.방법 대래자운남성곤명시제일인민의원유선과2009년8-12월수치적4례유선섬유선류환자적종류조직급외주혈mtDNA전기인조서렬진행취합매련반응(PCR)확증급DNA측서,비교기돌변분포차이,게시가능존재적종류조직특유적체세포돌변.결과 연구획득료환자종류조직mtDNA전기인조적돌변도보,병구건료계통발육관계수,결과게시,4례환자적mtDNA분별귀속위단배형류군D4i、G1、R9b급N9a.통과재외주혈mtDNA중검측종류양본중발현적사유돌변,연구현시부재단배형류군귀속위R9b적환자중존재16292위치적체세포변이.결론 기우4례량성유선종류환자적종류조직적mtDNA전기인조신식,부발현1개mtDNA공제구체세포변이,미능발현존재우mtDNA편마구중적가능구유공능성적체세포돌변.
Objective To investigate the correlation of somatic mutations in whole genome of mitochondrial DNA ( mtDNA ) in patients with breast tumor. Methods The DNA of tumor tissue and peripheral blood in 4 benign breast tumor patients from August 2009 to December 2009 in our hospital were extracted. The mtDNA whole genomes were amplified by polymerase chain reaction (PCR) and the mutations of products screened by sequencing to compare the difference of mutation distribution between tumor tissue and peripheral blood. The likelihood of somatic mutations in tumor tissue was determined. Results The mutation spectrum of mtDNA genomes was obtained by PGR and sequencing. Then a phylogenetic tree was constructed to identify their haplogroups (D4i, G1, R9b, N9a). Their private mutations in peripheral blood were detected and the somatic mutation at 16292 position was found in one patient ( haplogroups: R9b).Conclusion Based on the extensively study on the mtDNA genomes from the tumor issues of 4 patients, our current report observed only a single somatic variation from the control region, no any further mutations with potential function from the coding region were observed.
