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Asian Biomedicine
Volume 9 (2015): Numero 2 (April 2015)
Accesso libero
Identification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family
Pongsathorn Chaiyasap
Pongsathorn Chaiyasap
,
Chalurmpon Srichomthong
Chalurmpon Srichomthong
,
Siraprapa Tongkobpetch
Siraprapa Tongkobpetch
,
Kanya Suphapeetiporn
Kanya Suphapeetiporn
e
Vorasuk Shotelersuk
Vorasuk Shotelersuk
| 31 gen 2017
Asian Biomedicine
Volume 9 (2015): Numero 2 (April 2015)
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CONDIVIDI
Article Category:
Brief communication (Original)
Pubblicato online:
31 gen 2017
Pagine:
211 - 215
DOI:
https://doi.org/10.5372/1905-7415.0902.389
Parole chiave
Aminoglycoside
,
deafness
,
mitochondrial DNA
,
A1555G
,
mutation analysis
,
Thai
© 2017 Pongsathorn Chaiyasap, Chalurmpon Srichomthong, Siraprapa Tongkobpetch, Kanya Suphapeetiporn, Vorasuk Shotelersuk
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
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.
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.
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.