Genetic study of a family of neuronal ceroid lipofuscinosis caused by a heterozygous mutation of gene / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
;
(6): 373-377, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-819039
ABSTRACT
OBJECTIVE@#To analyze the genetic cause of a family with autosomal recessive neuronal ceroid lipofuscinoses (NCL).@*METHODS@#The proband was screened for mutations within the coding region of the candidate genes through high-throughput targeted sequencing. Potential causative mutations were verified by PCR and Sanger sequencing in the proband and his parents. RT-PCR and TA clone sequencing were performed to investigate whether the mRNAs were abnormally spliced.@*RESULTS@#The sequencing results revealed compound heterozygous mutations ofc.486+2T>C and c.486+4A>T, which were respectively inherited from his parents. RT-PCR and TA cloning sequencing suggested that the mRNAs were abnormally spliced in two forms due to both mutations.@*CONCLUSIONS@#The compound heterozygous mutations ofc.486+2T>C and c.486+4A>T are possibly the genetic causes of the NCL family. Detection of the novel mutation has extended mutation spectrum of .
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Processamento Alternativo
/
Genética
/
Proteínas de Membrana
/
Mutação
/
Lipofuscinoses Ceroides Neuronais
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Journal of Zhejiang University. Medical sciences
Ano de publicação:
2019
Tipo de documento:
Artigo
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