11 citations
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June 2015 in “Scientific Reports” In this study of Han Chinese women, the mitochondrial DNA N haplogroup was associated with a higher risk of late-onset systemic lupus erythematosus and its specific manifestations, such as skin impairment and neurological disturbances.
14 citations
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July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
August 2023 in “Frontiers in Endocrinology” This study identified novel mitochondrial DNA variations in PCOS patients from Pakistan, which may serve as genetic predisposition markers, highlighting especially the potential pathogenicity of frameshift mutations in the MT-ND2 gene.
The researchers reported that certain physical characteristics of hair shafts, such as length and color, may influence mtDNA read counts and degradation state when analyzed by massively parallel sequencing.
3 citations
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February 2024 in “Forensic Sciences Research” In this study, researchers found that massively parallel sequencing of mitochondrial DNA (mtDNA) can improve information recovery from forensic samples, with successful full region amplification possible from as few as 2,000 mtDNA copies, albeit with variability in heteroplasmy among hair samples from the same donor.