A non-invasive method for detecting mitochondrial tRNA
10.12122/j.issn.1673-4254.2021.01.23
- Author:
Zhining TANG
1
;
Xiaowen TANG
1
;
Ling XUE
1
;
Minxin GUAN
1
Author Information
1. School of Laboratory Medicine and Life Sciences, Attardi Institute of Mitochondrial Biomedicine, Wenzhou Medical University, Wenzhou 325035, China.
- Publication Type:Journal Article
- Keywords:
buccal swab collection;
m.15927G>A mutation;
mitochondrial mutation;
non-invasive detection;
tRNAThr15927G>A mutation
- MeSH:
DNA, Mitochondrial/genetics*;
Humans;
Mitochondria;
Mutation;
RNA, Transfer;
Sequence Analysis, DNA
- From:
Journal of Southern Medical University
2021;41(1):151-156
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the feasibility of detecting maternal hereditary mitochondrial tRNA
METHODS:We performed sequence analysis of mitochondrial DNA in blood samples from 2070 cases of maternal hereditary mitochondrial disease in the First Affiliated Hospital of Wenzhou Medical University, and identified 3 patients with m.15927G>A mutation.Buccal swabs and blood samples were obtained from the 3 patients (mutation group) and 3 normal volunteers (control group).After extracting whole genomic DNA from all the samples, the DNA concentration and purity were analyzed.The PCR products were subjected to dot blot hybridization, Southern blot hybridization, and DNA sequencing analysis to verify the feasibility of detecting m.15927G>A mutation using buccal swabs.
RESULTS:There was no significant difference in DNA concentration extracted from buccal swabs and blood samples in either the mutation group or the control group (
CONCLUSIONS:Buccal swabs collection accurate is an accurate and sensitive method for the detection of m.15927G>A mutation.
