Short Communication - Genetic Screening of Neonates for 20 Most Common Mutations in Deafness Associated Genes in Anhui Province of China

Short Communication - Genetic Screening of Neonates for 20 Most Common Mutations in Deafness Associated Genes in Anhui Province of China

Hearing loss is the most common human genetic disorder caused by mutations in various genes. Current study was initiated to analyze the 20 most common mutations by MALDI-TOF-MS method in deafness-associated genes (GJB2, GJB3, SLC26A4 and mitochondrial 12SrRNA) in 3,331 newborns from Anhui Province o...

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Veröffentlicht in:Pakistan journal of zoology 2016-10, Vol.48 (5), p.1573-1573
Hauptverfasser: Tang, Junxiang, Feng, Gang, Sun, Yuxiu, Wang, Chaohong, Khan, Muhammad Riaz, Bukhari, Ihtisham, Zhu, Jiansheng
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Sprache:eng
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Deafness
Diagnosis
Medical examination
Methods
Neonatal screening
Newborn infants
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container_issue 5
container_start_page 1573
container_title Pakistan journal of zoology
container_volume 48
creator Tang, Junxiang
Feng, Gang
Sun, Yuxiu
Wang, Chaohong
Khan, Muhammad Riaz
Bukhari, Ihtisham
Zhu, Jiansheng
description Hearing loss is the most common human genetic disorder caused by mutations in various genes. Current study was initiated to analyze the 20 most common mutations by MALDI-TOF-MS method in deafness-associated genes (GJB2, GJB3, SLC26A4 and mitochondrial 12SrRNA) in 3,331 newborns from Anhui Province of China. The analysis of data revealed that variations in GJB2 has high frequency 2.82% while SLC26A4, GJB3, and mitochondrial 12SrRNA were found to have 2.49%, 0.42%, and 0.33% respectively. This study is conducted for the first time on newborns in Anhui province, China which confirms the significant role of mutations in etiology of deafness in this population.
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source Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
subjects Deafness
Diagnosis
Medical examination
Methods
Neonatal screening
Newborn infants
title Short Communication - Genetic Screening of Neonates for 20 Most Common Mutations in Deafness Associated Genes in Anhui Province of China
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