线粒体基因组单倍型类群与喉鳞状细胞癌的相关性研究

Correlation between mitochondrial DNA haplogroups and laryngeal squamous cell carcinoma

目的检测常见线粒体基因组(mtDNA)单倍型A、B、C、D、F、G、M在正常人群及喉癌患者中的分布频率,探讨mtDNA单倍型与喉鳞状细胞癌(laryngeal squamous cell carcinoma,LSCC)发病的相关性。方法选取2013年12月~2015年12月80例LSCC患者作为实验组,同期选取健康体检者74例作为对照组(normal control,NC),提取两组病例的全血DNA,经PCR-扩增、基因测序,划分单倍型及其子单倍型,计算mtDNA单倍型及其子单倍型在不同组的分布频率,运用SPSS 20.0统计学软件进行统计分析,P<0.05为有统计学意义。结果mtDNA单倍型B及D4在LSCC组的分布频率高于NC组(P﹤0.05),且与临床分期无关(P>0.05)。结论mtDNA单倍型B和D4可能是LSCC的风险因素,可以作为LSCC发病的基因筛查参考指标。

Objective To study the correlation between mitochondrial DNA（ mtDNA） haplogroups and laryngeal squamous cell carcinoma（ LSCC） via detecting the distribution frequencies of mtDNA haplogroups（ mtDNA haplotype A,B,C,D,F,G and M） in normal population and LSCC patients. Methods 80 LSCC patients were enrolled in the study group and 74 healthy adults were selected as normal control（ NC）. DNA was extracted from whole blood of both groups,and the mtDNA haplotypes and their sub-haplotypes were demarcated by polymerase chain reaction（ PCR） and gene sequencing. Their distribution frequencies in both groups were detected. The frequency differences between the two groups were analyzed by using SPSS software version 20. 0. Results The frequencies of mtDNA haplotype B and D4 in LSCC group were higher than those in the NC group（ both P〈0. 05）,which was not related to clinical stage of tumor（ P 〉0. 05）. Conclusion The haplogroup B and D4 might be risk factors of LSCC,and therefore may be taken as reference marks for genetic screening of this tumor.