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
Format: Artikel
Sprache:eng
Schlagworte:
Deafness
Diagnosis
Medical examination
Methods
Neonatal screening
Newborn infants
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Zusammenfassung: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.
ISSN:0030-9923