贵州世居少数民族Y-SNP和Y-STR遗传多态性的研究

Y chromosome DNA (Y-DNA) is paternally inherited. Most of Y-DNA’s length, especially, nonrecombining region of Y chromosome(NRY), escapes from recombination,which accumulate more mutation and contain information about the evolutional history of human. Thus NRY contributes to understanding the regularity of human origin,evolution, immigration and forensic practice..Guizhou is rich in ethnic genetic resources, there are 54 ethnic groups and the minority population is more than a third of whole province. Among these groups, 17 have lived there for generations, such as the Miao, Buyi, Tujia, Dong, Yi, Gelao, Shui, Hui, Bai, Zhuang, Yao, Maonan, Mulao, Qiang, Man, She and Mongol. .In modern society, with economic development, the integration of ethnic groups were accelerated in Guizhou, therefore, a number of unique genetic resources disappear gradually. For better understand the structure of the genetic characteristics of ethnic groups in Guizhou , timely grasp the precious genetic resources , we plan to expand the study . To investigate the genetic polymorphism of Y-chromosomal short tandem repeats (STR) loci and Y- chromosome single nucleotide polymorphism (SNP) loci in the 17 native minority and Han population of Guizhou Province. 17 Y-STR loci were co-amplified using AmpFlSTR® Yfiler™ PCR Amplification Kit System, and the PCR products were analyzed by genetic analyzer. 22 Y-SNP loci were genotyped by SNaPshot assay with case material, and their distribution frequency in these populations were observed. Cluster and phylogenic tree analyses were conducted to show the genetic distance among the populations. The results can investigate the relationship between groups and within groups from the perspective of the paternally inherited, molecular evolution and thus provide evidence for the origin and migration of the populations.

Y 染色体非重组（NRY）区严格遵循父系遗传，在减数分裂时不会发生重组，利用其多态性可研究父系进化历史中的突发事件，探讨不同种族或群体的演化历史及相互间的亲缘关系，推测其起源、分化和扩散途径，对法医学、群体遗传学、分子进化、人类生态学和考古学研究都具有重要的意义。贵州有着丰富的少数民族遗传资源，项目组拟在初建贵州17个世居地少数民族DNA库等相关研究基础上，对隶属于汉藏语系、藏缅语族、苗瑶语族、壮侗语族、阿尔泰语系和满-通古斯语族等6个语族的贵州苗、布依、土家、侗、彝、仡佬、水、回、白、壮、瑶、毛南、蒙古、仫佬、羌、满、畲等17个世居地少数民族和汉族共18个人群约1200例男性样本的Y染色体NRY区22个Y-SNP和17个Y-STR进行遗传多态性分析，以期获得人群Y染色体遗传多态性信息和数据，从父系遗传学角度探讨群体间及群体内的相互关系，为民族群体族源研究提供分子进化的证据。

Y 染色体非重组（NRY）区严格遵循父系遗传，在减数分裂时不会发生重组，利用其多态性可研究父系进化历史中的突发事件，对探讨不同种族或群体相互间的亲缘关系及法医学、群体遗传学研究都具有重要的意义。贵州有着丰富的少数民族遗传资源，项目组在初建贵州17个世居地少数民族DNA库等相关研究基础上，对语言学分类上属于汉语族、藏缅语族、苗瑶语族、壮侗语族、蒙古语族和满-通古斯语族等6个语族的贵州苗、布依、土家、侗、彝、仡佬、水、回、白、壮、瑶、毛南、蒙古、仫佬、羌、满、畲等17个世居地少数民族和汉族共18个人群1300余例男性样本的Y染色体NRY区22个Y-STR和21个Y-SNP进行遗传多态性分析，获得上述人群Y染色体遗传多态性信息和数据，结合已有报道其他民族人群数据，从父系遗传学角度探讨群体间的遗传距离。结果显示，贵州18个民族的遗传距离与语言学分类、历史源流及地理分布相吻合，汉语族、藏缅语族、壮侗语族、苗瑶语族聚为一支，蒙古语族与满-通古斯语族聚为一支，相对杂居的民族人群间父系遗传结构存在基因交流；苗、瑶、畲、羌、水、毛南、仫佬等民族人群父系遗传结构单一；壮侗语族的7个民族均含有百越群体特征单倍群（O1a-M119），布依族、侗族、仡佬族间亲缘关系最近；满族和蒙古族既保留了某些北方民族的特征，又与南方民族发生了频繁的基因交流。