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KMID : 0361020210640020108
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Korean Journal of Otolaryngology - Head and Neck Surgery
2021 Volume.64 No. 2 p.108 ~ p.113
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Screening of A1555G mDNA Variant Using U-TOP™HL Genotyping Kit in Korean Family with Progressive Hearing Loss
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Ahn Jung-Hyun
Byun Kwang-Hyun
Jung Bo-Kyeung
Lee Min-Young
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Abstract
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Recently, real-time polymerase chain reaction (PCR) using the U-TOP™HL Genotyping Kithas been introduced to detect genetic hearing loss caused by certain type of gene variantspopularly found in Korea. The mitochondrial 12S ribosomal ribonucleic acid (rRNA) genesare related to aminoglycoside induced or non-syndromic, sensorineural hearing loss. Amongthem, 1555A>G is commonly found and reported worldwide. We are presenting the case of amother and a son, who were screened by real-time PCR using the U-TOP™HL GenotypingKit and were found both to have the mitochondrial 12s rRNA 1555A>G variant with a differenthearing loss phenotype. This report encourages clinicians to use this or similar screenmethods for patients with familial hearing loss.
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KEYWORD
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Genetic disease, Hearing loss, Mitochondria
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