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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
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Mitochondrial DNA Polymorphism in Zhejiang She Population Based on Next Generation Sequencing
Q Yang1,2, J Y Zhang2,3, X C Zhang1,2
1Department of Forensic Medicine, Medical College of Soochow University, Suzhou 215123, China.
Fa Yi Xue Za Zhi
|August 11, 2021
Summary
The She population in Zhejiang exhibits high genetic diversity in their mitochondrial DNA (mtDNA), revealing complex maternal lineages. This study clarifies their genetic relationships with other Chinese groups.
Area of Science:
- Population Genetics
- Human Genetics
- Mitochondrial DNA Analysis
Background:
- Understanding the genetic diversity and maternal lineage of ethnic populations is crucial for human evolutionary studies.
- The She population in Zhejiang represents a unique demographic group with limited genetic research.
- Mitochondrial DNA (mtDNA) is a valuable tool for tracing maternal ancestry due to its high mutation rate and maternal inheritance.
Purpose of the Study:
- To investigate the genetic polymorphism of whole mitochondrial DNA (mtDNA) genomes in the She population of Zhejiang.
- To explore the maternal genetic structure and relationships of the Zhejiang She population with other Chinese populations.
Main Methods:
- Whole mtDNA genomes of 231 unrelated individuals from the She population in Zhejiang were sequenced.
- Analysis of mutations, haplotype diversity (HD), discrimination power (DP), and random match probabilities (RMP).
- Classification of mtDNA haplogroups and estimation of maternal genetic relationships using Principal Component Analysis (PCA) and median-joining network analysis.
Main Results:
- Sequencing revealed 8,507 mutations (702 types) across 231 Zhejiang She samples, classified into 94 haplogroups.
- High values for haplotype diversity (0.998 6), discrimination power (0.994 2), and low random match probabilities (0.005 8) indicate significant polymorphism.
- Lowest genetic differentiation (Fst=0.006 89) was observed between Zhejiang She and southern Han populations, with close genetic distances to Guangxi Yao and Yunnan Dai populations.
Conclusions:
- The Zhejiang She population displays highly polymorphic whole mtDNA genomes.
- This population possesses complex and diverse genetic components, indicating a relatively close maternal genetic relationship with Guangxi Yao, Yunnan Dai, and Southern Han populations.
- The Zhejiang She population has maintained unique maternal genetic components despite its connections to other groups.
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