Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 476-480, 2015.
Artículo
en Chino
| WPRIM
| ID: wpr-288050
ABSTRACT
<p><b>OBJECTIVE</b>To identify potential mutation of TRAPPC2 gene in a Chinese family affected with X-linked spondyloepiphyseal dysplasia tarda (X-SEDL), and explore its underlying molecular mechanism.</p><p><b>METHODS</b>Peripheral blood samples were collected from 32 members of the family and 50 healthy adults to extract genomic DNA. DNA sequences of exons 3 to 6 and their exon/intron boundaries were amplified with PCR amplification. Direct bi-directional sequencing analysis was performed on the PCR products. The sequences were aligned to the reference sequences from the GenBank to determine mutation site and type.</p><p><b>RESULTS</b>A nucleotide substitution of the splice-donor in TRAPPC2 intron 3, c.93+5G>A, was detected in the proband, but no sequence change was detected in TRAPPC2 exons 3 to 6. All of the 6 male patients and 8 female carriers from the family were detected to have carried this mutation. The same mutation was not found in the remaining 18 family members with a normal phenotype and 50 healthy controls.</p><p><b>CONCLUSION</b>We have detected a c.93+5G>A mutation in the TRAPPC2 gene in a Chinese family affected with X-SEDL. Our results have expanded the spectrum of TRAPPC2 mutations and is helpful for presymptomatic and prenatal diagnoses of this disease.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Osteocondrodisplasias
/
Linaje
/
Proteínas de Transporte de Membrana
/
Factores de Transcripción
/
Análisis Mutacional de ADN
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Intrones
/
China
/
Exones
Tipo de estudio:
Estudio pronóstico
Límite:
Adulto
/
Niño
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2015
Tipo del documento:
Artículo
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