Identification of a novel splicing mutation of PKD1 gene in a pedigree affected with autosomal dominant polycystic kidney disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 778-781, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-345364
ABSTRACT
<p><b>OBJECTIVE</b>To identify potential mutations of PKD1 gene in a family affected with autosomal dominant polycystic kidney disease (ADPKD).</p><p><b>METHODS</b>The coding regions of the PKD1 gene were subjected to PCR and Sanger sequencing. Reverse transcription-PCR (RT-PCR) was used to determine the relative mRNA expression in the patient.</p><p><b>RESULTS</b>A splicing site mutation, c.8791+1_8791+5delGTGCG (IVS23+1_+5delGTGCG), was detected in the PKD1 gene in all 5 patients from the pedigree but not in 6 phenotypically normal relatives and 40 healthy controls. Sequencing of RNA has confirmed that there were 8 bases inserted in the 3' end of exon 23 of the PKD1 gene.</p><p><b>CONCLUSION</b>The novel c.8791+1_8791+5delGTGCG mutation has created a new splice site and led to a frameshift, which probably underlies the ADPKD in the family. Above finding has enriched the mutation spectrum of the PKD1 gene.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Splicing de RNA
/
Rim Policístico Autossômico Dominante
/
Canais de Cátion TRPP
/
Genética
/
Mutação
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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