贵州省3个少数民族线粒体DNA 9 bp序列缺失频率的分析研究

目的 探讨贵州省3个少数民族线粒体DNA(mtDNA)9 bp序列缺失频率情况.方法 随机选取贵州省雷山县苗族(69例)、荔波县布依族(70例)、荔波县水族(44例)共183例男性血液标本,应用PCR及直接测序检测线粒体DNA 9 bp序列缺失情况.结果 在贵州省3个少数民族样本中发现标准型、缺失型、3型,缺失频率最高为荔波县水族(40.91%),雷山县苗族中检出3型1例,3个少数民族群体间mtDNA 9 bp缺失频率比较差异无统计学意义(P>0.05).结论 3个世居少数民族mtD-N A 9 bp缺失频率不同,水族的遗传变异较大,水族与苗族的亲缘关系相比水族与布依族较近.

Study on frequency of 9 bp sequence deletion of mithochondrial DNA in three ethnic nationalities of Guizhou Province

Objective To study the frequency of 9 bp sequence deletion of mithochondrial DNA in three ethnic nationalities of Guizhou Province .Methods A total of 183 male blood samples were randomly extracted from Miao nationality (69 cases) in Leishan County ,Shui nationality (44 cases) and Buyi nationality (70 cases) in Libo County .Polymerase chain reaction(PCR) and di-rect sequencing were used to detect the mithochondrial DNA 9 bp sequence deletion .Results The standard type ,deleting type and 3 type were found in the samples of 3 ethnic nationalities in Guizhou Province ,the highest deletion frequency was Shui nationality (40 .91% ) in Libo County ,1 cases of 3 type was detected in Miao nationality of Leishan County ,and the mtDNA 9 bp deletion fre-quency had no statistical difference among 3 ethnic nationalities(P>0 .05) .Conclusion The frequency of mtDNA 9 bp deletion is different among three native minorities ,the genetic variation in Shui nationality is larger ,compared with Miao nationality genetic re-lationship ,Shui nationality has a relatively closer affinity with Buyi nationality .