Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity

This article describes a multiplex allele-specific PCR (AS-PCR) approach for detection of an A to G mutation occurring in the human mitochondrial 12s RNA gene at nucleotide 1555. Possession of this mutation has been shown to be associated with irreversible hearing loss following administration of am...

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Veröffentlicht in:	Journal of human genetics 1999-01, Vol.44 (6), p.388-390
Hauptverfasser:	Scrimshaw, B. J., Faed, J. M., Tate, W. P., Yun, K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Aminoglycosides Anti-Bacterial Agents - adverse effects Biomedicine Deafness - chemically induced DNA, Mitochondrial - genetics Gene Expression Gene Function Gene Therapy Genes, rRNA Human Genetics Humans Molecular Medicine Point Mutation Polymerase Chain Reaction - methods RNA, Ribosomal - genetics Short Communication
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container_title	Journal of human genetics
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creator	Scrimshaw, B. J. Faed, J. M. Tate, W. P. Yun, K.
description	This article describes a multiplex allele-specific PCR (AS-PCR) approach for detection of an A to G mutation occurring in the human mitochondrial 12s RNA gene at nucleotide 1555. Possession of this mutation has been shown to be associated with irreversible hearing loss following administration of aminoglycoside antibiotics, and in some families is associated with profound sensorineural deafness in the absence of aminoglycoside antibiotics. We screened 206 unrelated individuals from the province of Otago, New Zealand, and found one who possessed the mitochondrial 1555 A to G mutation (0.48%; 95% confidence interval, 0.01–2.75).
doi_str_mv	10.1007/s100380050184
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We screened 206 unrelated individuals from the province of Otago, New Zealand, and found one who possessed the mitochondrial 1555 A to G mutation (0.48%; 95% confidence interval, 0.01–2.75).</description><subject>Aminoglycosides</subject><subject>Anti-Bacterial Agents - adverse effects</subject><subject>Biomedicine</subject><subject>Deafness - chemically induced</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Genes, rRNA</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Molecular Medicine</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction - methods</subject><subject>RNA, Ribosomal - genetics</subject><subject>Short Communication</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kFFLwzAUhYMoTqePvkr-QOdNk6zt45g6haEgCr6VNEm3jCYpTSvu35tZH_RBLtwb7vnugRyErgjMCEB2E2KnOQAHkrMjdEYY5UlK0_fj7zdLOJmTCToPYQeRTLP0FE0I8AwKAmfo40W0RmGjtOtNbaTojXfY11g4vCCc8xW2Qz9ujcPbwUbBmt7LrXeqM6LBt08LbGzbHI61OlDCGuc3zV76EI0T49Qgo-L7WJ9Gmn5_gU5q0QR9-TOn6O3-7nX5kKyfV4_LxTqRjOd9IkHXkimpGCjgimQ0l0Um0kKLIiMsr7KU5mwuqkLIWnFVkJRrkIRqPa84AzpFyegrOx9Cp-uy7YwV3b4kUB7yK__kF_nrkW-Hymr1ix4Di8BsBEKU3EZ35c4PnYt_-MfxC2sTesA</recordid><startdate>19990101</startdate><enddate>19990101</enddate><creator>Scrimshaw, B. 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M.</creatorcontrib><creatorcontrib>Tate, W. P.</creatorcontrib><creatorcontrib>Yun, K.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Scrimshaw, B. J.</au><au>Faed, J. M.</au><au>Tate, W. P.</au><au>Yun, K.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity</atitle><jtitle>Journal of human genetics</jtitle><stitle>J Hum Genet</stitle><addtitle>J Hum Genet</addtitle><date>1999-01-01</date><risdate>1999</risdate><volume>44</volume><issue>6</issue><spage>388</spage><epage>390</epage><pages>388-390</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>This article describes a multiplex allele-specific PCR (AS-PCR) approach for detection of an A to G mutation occurring in the human mitochondrial 12s RNA gene at nucleotide 1555. Possession of this mutation has been shown to be associated with irreversible hearing loss following administration of aminoglycoside antibiotics, and in some families is associated with profound sensorineural deafness in the absence of aminoglycoside antibiotics. 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subjects	Aminoglycosides Anti-Bacterial Agents - adverse effects Biomedicine Deafness - chemically induced DNA, Mitochondrial - genetics Gene Expression Gene Function Gene Therapy Genes, rRNA Human Genetics Humans Molecular Medicine Point Mutation Polymerase Chain Reaction - methods RNA, Ribosomal - genetics Short Communication
title	Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity
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