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Identification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family Cover

Identification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family

Asian Biomedicine
Volume 9 (2015): Issue 2 (April 2015)
By: Pongsathorn Chaiyasap,  Chalurmpon Srichomthong,  Siraprapa Tongkobpetch,  Kanya Suphapeetiporn and  Vorasuk Shotelersuk  
Open Access
|Jan 2017

Figures & Tables

Figure 1

The pedigree of a Thai family with 11 members with aminoglycoside-induced deafness. An arrow, proband; blackened symbols, affected individuals; horizontal bars above symbols, individuals clinically examined.
The pedigree of a Thai family with 11 members with aminoglycoside-induced deafness. An arrow, proband; blackened symbols, affected individuals; horizontal bars above symbols, individuals clinically examined.

Figure 2

Mutation analysis of MT-RNR1. Electropherogram of MT-RNR1 from (A) a Thai healthy control and (B) III-5, which shows a homoplasmic A>G mutation at position 1555 of the human mitochondrial DNA.
Mutation analysis of MT-RNR1. Electropherogram of MT-RNR1 from (A) a Thai healthy control and (B) III-5, which shows a homoplasmic A>G mutation at position 1555 of the human mitochondrial DNA.

Figure 3

Restriction fragment length polymorphism (RFLP) analysis of MT-RNR1.Lane 1 represents a 1000-bp marker with the 1500-bp band indicated by an arrow head. Lane 2 is a Thai healthy control showing a 1266-bp fragment, resulting from a restriction enzyme BsmAI digestion. Lanes 3–6 are III-1, III-3, III-4, and III-5 showing undigested 1463-bp PCR products, indicating that all 4 patients have a homoplasmic A1555G mutation.
Restriction fragment length polymorphism (RFLP) analysis of MT-RNR1.Lane 1 represents a 1000-bp marker with the 1500-bp band indicated by an arrow head. Lane 2 is a Thai healthy control showing a 1266-bp fragment, resulting from a restriction enzyme BsmAI digestion. Lanes 3–6 are III-1, III-3, III-4, and III-5 showing undigested 1463-bp PCR products, indicating that all 4 patients have a homoplasmic A1555G mutation.
DOI: https://doi.org/10.5372/1905-7415.0902.389 | Journal eISSN: 1875-855X | Journal ISSN: 1905-7415
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Language: English
Page range: 211 - 215
Published on: Jan 31, 2017
Published by: Chulalongkorn University
In partnership with: Paradigm Publishing Services
Publication frequency: 6 issues per year
Keywords:
Aminoglycoside,
deafness,
mitochondrial DNA,
MT-RNR1,
A1555G,
mutation analysis,
Thai
Related subjects:
Medicine,
Assistive professions, nursing,
Basic medical science,
Basic medical science, other,
Clinical medicine,
Clinical medicine, other

© 2017 Pongsathorn Chaiyasap, Chalurmpon Srichomthong, Siraprapa Tongkobpetch, Kanya Suphapeetiporn, Vorasuk Shotelersuk, published by Chulalongkorn University
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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