Genetic and prenatal diagnosis of a retinitis pigmentosa pedigree / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 184-187, 2018.
Artículo
en Chino
| WPRIM
| ID: wpr-687982
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic etiology of a pedigree affected with hereditary retinitis pigmentosa.</p><p><b>METHODS</b>High-throughput DNA sequencing was used to analyze the sequences of 173 genes associated with hereditary eye diseases in the proband. Suspected mutation was verified with PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>The proband was found to have carried a c.570_571 ins GAAGATGCTGT insertional mutation in the RP2 gene located on the X chromosome. All female carriers of the pedigree were heterozygous, while all affected males were hemizygous for the same mutation.</p><p><b>CONCLUSION</b>The inheritance pattern of this retinitis pigmentosa pedigree was X-linked recessive. The c.570_571 ins GAAGATGCTGT insertional mutation of the RP2 gene probably underlies the disease.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Diagnóstico Prenatal
/
Retinitis Pigmentosa
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Péptidos y Proteínas de Señalización Intracelular
/
Proteínas del Ojo
/
Secuenciación de Nucleótidos de Alto Rendimiento
/
Genética
/
Proteínas de la Membrana
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Masculino
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2018
Tipo del documento:
Artículo
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