Molecular Genetics and Genomics

, Volume 294, Issue 6, pp 1487–1498 | Cite as

Genetic diversity, structure and forensic characteristics of Hmong–Mien-speaking Miao revealed by autosomal insertion/deletion markers

  • Han Zhang
  • Guanglin He
  • Jianxin Guo
  • Zheng Ren
  • Hongling Zhang
  • Qiyan Wang
  • Jingyan Ji
  • Meiqing Yang
  • Jiang HuangEmail author
  • Chuan-Chao WangEmail author
Original Article


Insertion/deletion (Indel) genetic markers have special features compared to other forensic-related markers, such as the low mutation rate and di-allelic markers with length polymorphism, playing an indispensable role in the forensic and population genetics, molecular anthropology and evolutionary biology. However, the genetic diversity, allelic frequency, forensic parameters and population genetic characteristics of the Indel markers in Hmong–Mien-speaking Guizhou Miao people are unclear due to the sparse sampling. Thus, we genotyped 30 forensic-related Indel markers in 311 unrelated healthy Miao individuals (149 females and 161 males) residing in the Guizhou Province in Southwest China using the Investigator DIPplex amplification system. All 30 Indels are in accordance with the no departures of Hardy–Weinberg equilibrium and linkage disequilibrium. The combined probability of discrimination and the probability of exclusion in Guizhou Miao population are 0.999999999948 and 0.9843, respectively. This observed ideal forensic parameter estimates indicate that this di-allelic Indel panel can be used as a supplementary tool in forensic retinue personal identification and complemented for autosomal STRs in the parentage testing in Miao population, especially used as the main tool in old or highly degraded samples in disaster victim identification. Eleven Indels show a high allele frequency difference between different continental populations and could be used as ancestry-informative markers in forensic ancestry inference. Phylogenetic relationships between Guizhou Miao and 68 worldwide populations based on the genetic polymorphisms of Indels are investigated via three different pairwise genetic distances, principal component analysis, multidimensional scaling analysis and phylogenetic relationship reconstructions. Analyses of the comprehensive population genetic relationship comparison reveal significant genetic differentiation of Chinese groups. Our results demonstrate that Guizhou Miao people are genetically closer related to the geographically adjacent populations, especially with Liangshan Yi, Guangxi Miao and Dong, but genetically distinct with Turkic-speaking populations. Comprehensive and precise genetic admixture and divergence history of Guizhou Miao and neighboring populations are needed to further investigate and reconstruct via high-density marker panel or whole-genome sequencing of modern or ancient Miao samples.


Insertion/deletion Hmong–Mien-speaking Miao Forensic genetics Population genetics Genetic distance 



The work was funded by National Natural Science Foundation of China (81260467, 81660311, 31801040), Nanqiang Outstanding Young Talents Program of Xiamen University (X2123302), and Fundamental Research Funds for the Central Universities (ZK1144).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no competing interests.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the Guizhou Medical University and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Data availability

All our data are submitted as supplementary materials.

Supplementary material

438_2019_1591_MOESM1_ESM.tif (2.1 mb)
Supplementary Figure S1. Forensic statistical frequency distribution of 30 Indels in Miao population (TIFF 2187 kb)
438_2019_1591_MOESM2_ESM.tif (3.9 mb)
Supplementary Figure S2. Heatmap of pairwise Nei’s genetic distances between Guizhou Miao and 68 worldwide populations (TIFF 3969 kb)
438_2019_1591_MOESM3_ESM.tif (3.9 mb)
Supplementary Figure S3. Heatmap of pairwise Cavalli-Sforza genetic distances among 69 populations (TIFF 3978 kb)
438_2019_1591_MOESM4_ESM.tif (1.8 mb)
Supplementary Figure S4. Heatmap of pairwise Nei’s genetic distances between Guizhou Miao and 28 Chinese populations belonging to seven language families (TIFF 1889 kb)
438_2019_1591_MOESM5_ESM.tif (1.7 mb)
Supplementary Figure S5. Heatmap of pairwise Cavalli-Sforza genetic distances among 29 Chinese populations belonging to seven language families (TIFF 1745 kb)
438_2019_1591_MOESM6_ESM.tif (1.7 mb)
Supplementary Figure S6. Heatmap on the basis of the pairwise Reynolds genetic distances showed the genetic similarities and differences among 9 Chinese populations belonging to seven language families (TIFF 1766 kb)
438_2019_1591_MOESM7_ESM.tif (2.1 mb)
Supplementary Figure S7. Principal component analyses showed the genetic similarities and differences among 29 Chinese populations belonging to seven language families on the basis of the genetic variations from the first three components (TIFF 2161 kb)
438_2019_1591_MOESM8_ESM.tif (2.1 mb)
Supplementary Figure S8. Genetic homogeneity and heterogeneity revealed by the second, third and fourth components in the principal component analyses (TIFF 2196 kb)
438_2019_1591_MOESM9_ESM.xlsx (86 kb)
Supplementary Table S1. The raw genotype data of 30 Indels included in the Investigator DIPplex amplification system in Miao population residing in Guizhou province, southwest China (XLSX 85 kb)
438_2019_1591_MOESM10_ESM.xlsx (12 kb)
Supplementary Table S2. The allele frequency distribution and corresponding statistical parameters of forensic interest of 30 Indels in the Miao population residing in Guizhou province, southwest China (XLSX 12 kb)
438_2019_1591_MOESM11_ESM.xlsx (15 kb)
Supplementary Table S3. The p values of Linkage Disequilibrium among 30 Indels included in the Investigator DIPplex amplification system (XLSX 15 kb)
438_2019_1591_MOESM12_ESM.xls (131 kb)
Supplementary Table S4. Comparative results of forensic efficiency of different commercial kits (XLS 131 kb)
438_2019_1591_MOESM13_ESM.xls (116 kb)
Supplementary Table S5. The Nei’s genetic distances between the Guizhou Miao and 68 worldwide populations on the basis of genetic variations of 30 Indels included in the Investigator DIPplex amplification system (XLS 116 kb)
438_2019_1591_MOESM14_ESM.xls (116 kb)
Supplementary Table S6. The Reynolds’s genetic distances between the Guizhou Miao and 68 worldwide populations on the basis of genetic variations of 30 Indels included in the Investigator DIPplex amplification system (XLS 116 kb)
438_2019_1591_MOESM15_ESM.xlsx (12 kb)
Supplementary Table S7. The Cavalli-Sforza chord measures between the Guizhou Miao and 68 worldwide populations on the basis of genetic variations of 30 Indels included in the Investigator DIPplex amplification system (XLSX 12 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • Han Zhang
    • 1
  • Guanglin He
    • 2
    • 3
  • Jianxin Guo
    • 3
  • Zheng Ren
    • 1
  • Hongling Zhang
    • 1
  • Qiyan Wang
    • 1
  • Jingyan Ji
    • 1
  • Meiqing Yang
    • 1
  • Jiang Huang
    • 1
    Email author
  • Chuan-Chao Wang
    • 3
    Email author
  1. 1.Department of Forensic MedicineGuizhou Medical UniversityGuiyangChina
  2. 2.Institute of Forensic Medicine, West China School of Basic Science and Forensic MedicineSichuan UniversityChengduChina
  3. 3.Department of Anthropology and Ethnology, Institute of AnthropologyXiamen UniversityXiamenChina

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