Cycling temperature capillary electrophoresis: A quantitative, fast and inexpensive method to detect mutations in mixed populations of human mitochondrial DNA.

Abstract:

:Cycling temperature capillary electrophoresis has been optimised for mutation detection in 76% of the mitochondrial genome. The method was tested on a mixed sample and compared to mutation detection by next generation sequencing. Out of 152 fragments 90 were concordant, 51 discordant and in 11 were semi-concordant. Dilution experiments show that cycling capillary electrophoresis has a detection limit of 1-3%. The detection limit of routine next generation sequencing was in the ranges of 15 to 30%. Cycling temperature capillary electrophoresis detect and accurate quantify mutations at a fraction of the cost and time required to perform a next generation sequencing analysis.

journal_name

Mitochondrion

journal_title

Mitochondrion

authors

Refinetti P,Morgenthaler S,Ekstrøm PO

doi

10.1016/j.mito.2016.04.006

subject

Has Abstract

pub_date

2016-07-01 00:00:00

pages

65-74

eissn

1567-7249

issn

1872-8278

pii

S1567-7249(16)30038-1

journal_volume

29

pub_type

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