The sequencing analyze of 915 newborn with GJB2 heterozygous mutation in Beijing / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
;
(24): 1164-1167, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-747913
ABSTRACT
OBJECTIVE@#To determine GJB2 allelic mutant and estimate probability of hereditary hearing loss in newborn with GJB2 heterozygous mutation in Beijing.@*METHOD@#We performed genetic testing for sequencing of GJB2 gene for searching GJB2 allelic mutant in 915 newborn who received newborn deafness gene screening (GJB2 c. 235delC, GJB2 c. 299_300delAT, GJB2 c. 176191del16, GJB2 c. 35delG) in Beijing Tongren hospital, and the mutation were classified to pathogenic mutation,undefined variant and polymorphism.@*RESULT@#Four hundred (43.72%, 400/915) newborn were detected to carry at least one mutation allele in GJB2. 3 (0.33%, 3/915) newborn had pathogenic mutations (c. 94C>T, c. 380G>T, c. 344T>G); 62 (6.76%, 62/915) newborn carried 14 undefined variant, 36 newborn had c. 109G>A (58.06%, 36/62),13 newborn had c. 368C>A (20.97%,13/62), six (c. 268C>G, c. 282C>T, c. 294G>C, 456C>T, c. 501G>A, c. 587T>C) are novel; 335 (36.61%, 335/915) newborn were polymorphism.@*CONCLUSION@#The probability of hereditary hearing loss is 7.09% in newborn with GJB2 heterozygous mutation in Beijing. It is noteworthy that c. 109G>A, c. 368C>A occupy a high proportion.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polimorfismo Genético
/
Análise Mutacional de DNA
/
Testes Genéticos
/
Triagem Neonatal
/
Conexinas
/
Surdez
/
Alelos
/
Pequim
/
Conexina 26
/
Genética
Limite:
Humanos
/
Recém-Nascido
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Ano de publicação:
2015
Tipo de documento:
Artigo
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