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Updated: Jul 13, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
[Sequence-length polymorphism research of C-stretch in mitochondrial DNA hyper-variant region]
Ya Tuo1, Qing-Bo Liu, Sheng-Bin Li
1The National Laboratory of the Ministry of Health for Forensic, College of Medicine, Xi'an Jiaotong University, Xi'an 710061, China. tanny@stu.xjtu.edu.cn
Objective:
To investigate the polymorphism of C-stretch in mitochondrial DNA hyper-variant region and the values in forensic science.
Methods:
The gene frequency were detected in such two loci of nt16180 and nt310 by using PCR-sequencing technique with two pair of primers according to the reference.
Results:
The length of PCR products were 807 bp and 962 bp respectively. Seven genotypes in each locus were detected. AAAACCCCCTCCCC allele amounted to 87.72% of all nt16180 genotype, while AAAACCCCCCCCCCCCC was firstly reported in Han population. CCCCCCCCTCCCCCC allele amounted to 60.53% of all nt310 genotype. 15 haplotypes were detected among 114 samples. The GD value was 0.6309. The AAAACCCCCTCCCC-CCCCCCCCTCCCCCC haplotype was the most high frequency and amounted to 57.89%.
Conclusion:
The obtained basic genetic data in two loci of nt16180 and nt310 of mtDNA will be useful for forensic science.
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