Heteroplasmy in the control region of human mitochondrial DNA.
نویسندگان
چکیده
منابع مشابه
Universal heteroplasmy of human mitochondrial DNA
Mammalian cells contain thousands of copies of mitochondrial DNA (mtDNA). At birth, these are thought to be identical in most humans. Here, we use long read length ultra-deep resequencing-by-synthesis to interrogate regions of the mtDNA genome from related and unrelated individuals at unprecedented resolution. We show that very low-level heteroplasmic variance is present in all tested healthy i...
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Cell free DNA (cfDNA) has received increasing attention and has been studied in a broad range of clinical conditions. However, few studies have focused on mitochondrial DNA (mtDNA) in the cell free form. We optimized DNA isolation and sequencing library preparation protocols to better retain short DNA fragments from plasma, and applied these optimized methods to plasma samples from patients wit...
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Mitochondrial heteroplasmy is shown to be extensive when amplification products from the mitochondrial control region are cloned and sequenced from a European bat species. In contrast, a mitochondrial ribosomal RNA gene does not exhibit substantial levels of heteroplasmy when analyzed in an identical way. In the bat, heteroplasmy with respect to length as well as sequence seems to be transmitte...
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Intraspecific and interspecific nucleotide sequence variations of the mtDNA control region (D-loop) were studied with mtDNAs isolated from tissue specimens of more than 1400 sturgeons of nine species: Russian sturgeon Acipenser gueldenstaedtii , Persian sturgeon A. persicus , Siberian sturgeon A. baerii , Amur sturgeon A. schrenkii , Fringebarbel sturgeon A. nudiventris , sterlet A. ruthenus , ...
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The D-loop region is a hot spot for mitochondrial DNA (mtDNA) alterations, containing two hypervariable segments, HVS-I and HVS-II. In order to identify polymorphic sites and potential genetic background accounting for Hypertrophic CardioMyopathy (HCM) disease, the complete non-coding region of mtDNA from 31 unrelated HCM patients and 45 normal controls were sequenced. The sequences were aligne...
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ژورنال
عنوان ژورنال: Genome Research
سال: 1995
ISSN: 1088-9051
DOI: 10.1101/gr.5.1.89