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Analysis of the deafness gene screening results from newborns in Shijiazhuang / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 1676-1679, 2015.
Artículo en Chino | WPRIM | ID: wpr-746888
ABSTRACT
OBJECTIVE@#To build information repository of the carrying rate of neonatal deafness gene in Shijiazhuang.@*METHOD@#Blood samples were collected from the heel in 3-days neonates. Mutations of the deafness related genes were detected by the method of fluorescent PCR. Neonates received the detection of 6 mutation sites from 3 genes, including GJB2 (235delC, 299-300delAT), SLC26A4 (IVS7-2A> G, 2168A> G), mitochondrial DNA12S rRNA(1494C>T,1555A>G).@*RESULT@#There were 384 neonates who carried mutations among 421 subjects and the carrying rate was 4.08%, 158 (1.68%) newborns carried heterozygous mutations and 1 (0.01%) case carried homogeneous mutation of GJB2 (235 delC), 55 (0.58%) neonates carried heterozygous mutations of GJB2 (299-300delAT); 133 (1.41%) neonates carried heterozygous mutations and 1 (0.01%) homogeneous of SLC26A4(IVS7-2A>G),19 (0.20%) newborns carried heterozygous mutations of SLC26A4 (2168A>G). The numbers of neonates who carried homogeneous and heterogeneous mutation of mitochondrial 12S rRNA gene were 14 and 3 with carring rates of 0.15% and 0.03%. Two newborns were found to carry more than one mutation. One carried 235delC, IVS7-2A>G and 1555A>G and another carried 235delC and IVS7-2A>G.@*CONCLUSION@#The main mutational patterns were 235delC from GJB2 gene and IVS7-2A>G from SLC26A4 gene in Shijiazhuang newborns. The carrying rate information repository of neonatal deafness gene has been built preliminarily.
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: ADN Mitocondrial / ARN Ribosómico / Análisis Mutacional de ADN / Pruebas Genéticas / Reacción en Cadena de la Polimerasa / Tamizaje Neonatal / Conexinas / Sordera / Conexina 26 / Genética Tipo de estudio: Estudio diagnóstico / Estudio de tamizaje Límite: Humanos / Recién Nacido Idioma: Chino Revista: Journal of Clinical Otorhinolaryngology Head and Neck Surgery Año: 2015 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: ADN Mitocondrial / ARN Ribosómico / Análisis Mutacional de ADN / Pruebas Genéticas / Reacción en Cadena de la Polimerasa / Tamizaje Neonatal / Conexinas / Sordera / Conexina 26 / Genética Tipo de estudio: Estudio diagnóstico / Estudio de tamizaje Límite: Humanos / Recién Nacido Idioma: Chino Revista: Journal of Clinical Otorhinolaryngology Head and Neck Surgery Año: 2015 Tipo del documento: Artículo