藏汉民族线粒体基因组全序列的比较研究  

Comparative analysis of the complete mitochondrial genome between Tibetan and Han population

作　　者：顾明亮 汪业军[2] 史磊 姜枫[2] 邱梦洁[2] 林克勤 陶玉芬 史荔 黄小琴[1] 刘斌[2] 褚嘉祜 

机构地区：[1]中国医学科学院医学生物学研究所医学遗传学研究室,昆明650118 [2]中国科学院北京基因组研究所

出　　处：《中华医学遗传学杂志》2008年第4期382-386,共5页Chinese Journal of Medical Genetics

摘　　要：目的以藏汉民族线粒体基因组全序列为基础，进行Haplogroup构建和系统发生分析，在全序列水平上比较核苷酸的变异，阐释可能的变异机制和蕴含的生物学意义。方法采用Applied Biosystems 3730DNA自动测序仪分别对40名藏族和50名汉族的标本进行线粒体DNA序列测定，应用phred Phrap16．0软件进行全序列拼接，并以rCRS（revised Cambridge ReferenceSequence）为标准与测定序列进行比对分析；根据MTTO-MAP的标准，通过Network方法进行Haplogroup构建和系统发生的分析，并结合其它方法对产生的数据进行深入解读。结果数据分析结果显示：在系统发生上，藏汉民族90个线粒体DNA序列归类到13个Haplogroups，除№以外，其它各Haplogroup出现频率之间比较差异无统计学意义；通过两个民族的线粒体DNA全序列比对，发现21个分布频率有统计学意义的变异位点，其中的5个为新变异位点；另外，对D-Loop区的5个突变位点进行了单倍型构建，90个标本可分为2种Supertype，发现在藏汉民族之间Supertype1和Supertype2的分布频率均有统计学意义。结论藏汉民族在种族起源和系统发生上具有较近的母系遗传关系；在全序列有统计学意义的位点究竟是适应性或者中性选择，抑或是一种病理性突变尚需深入的探讨。Objective To construct the haplogroup and perform an analysis of mitochondrial whole-genome sequence in Tibetan and Han Chinese. Variations of nucleotide of mitochondrial DNA （mtDNA） were identified and compared between the Tibetan and Han population. Methods The mtDNA whole sequences of 40 Tibetan and 50 Han indi- viduals were sequenced by an Applied Biosystems 3730 DNA automatic sequencer. The sequences were assembled using software phredPhrapl6.0, and all assembled sequences were manually verified according to the criterion of rCRS （revised Cambridge Reference Sequence）. The haplogroups of mtDNA were constructed using phylogenetic analysis according to the criteria of MITOMAP by Network method. The data were elucidated by integrated methods. Results Authors＇ results showed that all the pooled 90 subjects belonged to the Macrohaplogroup M and N, and were classified into 13 haplogroups. No differences were observed among the haplogroups of the two populations except for M9 haplogroup. A total of.2.1 variants were detected by comparing the mtDNA whole sequences between Tibetan and Han population; of those, 5 variants have not been reported before. In addition, we constructed the haplotypes of 5 variants harboring the D-loop region, and founded prominent difference in beth supertype 1 and supertype 2 between Tibetan and Han population. Condusion The phylogenetic analysis indicates that the Tibelan and Han ethnic groups shared close maternal relationship in origin. The biological implication of the significant variants is worth elucidating; whether they are the results of adaptive selection or neutral selection or pathological variations need to be further studied.

关 键 词：藏族 汉族 线粒体 基因组 测序 

分 类 号：R686[医药卫生—骨科学]