Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 224-227, 2017.
Artículo
en Chino
| WPRIM
| ID: wpr-335150
ABSTRACT
<p><b>OBJECTIVE</b>To detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism.</p><p><b>METHODS</b>Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>A previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation.</p><p><b>CONCLUSION</b>A novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Glicoproteínas de Membrana
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Albinismo Ocular
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Pueblo Asiatico
/
Proteínas del Ojo
/
Genética
/
Mutación
Tipo de estudio:
Estudio diagnóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Lactante
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2017
Tipo del documento:
Artículo
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