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.
Article
en Zh
| WPRIM
| ID: wpr-345364
Biblioteca responsable:
WPRO
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:
1
Base de datos:
WPRIM
Asunto principal:
Linaje
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Empalme del ARN
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Riñón Poliquístico Autosómico Dominante
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Canales Catiónicos TRPP
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Genética
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Mutación
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
Límite:
Adult
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2016
Tipo del documento:
Article