Screening of common deaf genes in pregnant women and prevention of deafness at birth / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 339-342, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-239475
ABSTRACT
<p><b>OBJECTIVE</b>To determine the carrier rate for common mutations causing deafness among pregnant women in order to prevent births of deaf children.</p><p><b>METHODS</b>For 893 pregnant women, 2 mL peripheral venous blood was taken and DNA was extracted. A deafness DNA microarray screening was applied to such samples, and DNA sequencing was applied to husbands of women with positive screening results.</p><p><b>RESULTS</b>A total of 40 carriers were detected, with the overall mutation rate being 4.48%. Among such carriers, GJB2 235delC was the most common heterozygous mutation (18 cases) and the mutation rate was 2.02%. GJB2 299A-T heterozygous mutation was detected in 7 cases with a mutation rate of 0.78%. IVS7-2A to G heterozygous mutation was detected in 9 cases with a mutation rate of 1.02%. There were 2 cases carrying GJB3 heterozygous mutation and 2 cases of mitochondrial 12S rRNA heterozygous mutation, with a mutation rate of 0.22%. IVS7-2A>G with GJB3 538C>T double heterozygous mutation was detected in 1 case, and IVS7-2A>G with GJB2 299A-T double heterozygous mutation was detected in another case, with the mutation rate of each being 0.11%. DNA sequencing has failed to find presence of mutations in the same gene in the husbands. The results of neonatal hearing follow-up were all normal.</p><p><b>CONCLUSION</b>Applications of the deaf genes screening in pregnant women may play prove to be valuable for the early detection for neonatal deafness.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Complicações na Gravidez
/
Diagnóstico Pré-Natal
/
RNA Ribossômico
/
Embriologia
/
Testes Genéticos
/
Conexinas
/
Surdez
/
Diagnóstico
/
Conexina 26
/
Genética
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
/
Estudo de rastreamento
Limite:
Adulto
/
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Artigo
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