Mutation screening and prenatal diagnosis of methylmalonic academia in a Chinese pedigree by Ion Torrent semiconductor sequencing / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 181-185, 2016.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-247711
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify pathogenic mutations in a Chinese pedigree affected with methylmalonic academia for genetic counseling and prenatal diagnosis.</p><p><b>METHODS</b>Molecular analysis of the MUT, MMACHC, MMAA and MMAB genes was performed for the proband with methylmalonic academia by Ion Torrent semiconductor sequencing. Candidate mutations were validated by Sanger sequencing. The couple was offered prenatal diagnosis via analyzing of the fetal DNA through amniocentesis.</p><p><b>RESULTS</b>The proband was found to be compound heterozygous for c.609G>A (p.Trp203X) and c.658-660del AAG (p.Lys220del) mutations, which were inherited respectively from each of his parents. Prenatal diagnosis showed that the fetus has inherited two wild-type parental alleles.</p><p><b>CONCLUSION</b>The targeted Ion Torrent PGM sequencing has detected pathogenic mutations in the Chinese pedigree affected with methylmalonic academia, which has provided molecular evidence for clinical diagnosis, genetic counseling and prenatal diagnosis for the family.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Diagnóstico Pré-Natal
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Proteínas de Transporte
/
China
/
Embriologia
/
Alquil e Aril Transferases
/
Proteínas de Transporte da Membrana Mitocondrial
/
Povo Asiático
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Adulto
/
Feminino
/
Humanos
/
Lactente
/
Masculino
/
Gravidez
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo