Analysis on the effect of secondary mutations on Leber's hereditary optic neuropathy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 397-400, 2007.
Artículo
en Chino
| WPRIM
| ID: wpr-247308
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the effect of secondary mutations on Leber's hereditary optic neuropathy (LHON).</p><p><b>METHODS</b>Three primary and 24 secondary mutations were identified in 4 Chinese families which included male offspring.</p><p><b>RESULTS</b>All of the four pedigrees carried classic LHON mutations at nucleotide (nt) 11778, and did not carry any point of 24 secondary mutations. Nevertheless many polymorphic points were found in the nearby fragments of these pedigrees, such as 5178, 5108, 3705, 3721, 13734, etc.</p><p><b>CONCLUSION</b>Male offspring sequences should be analyzed in pedigrees with LHON to avoid the influence of familial inheritance characteristic which mitochondrial DNA polymorphism carried. Existence of the "repair genes" may affect the development of LHON.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Polimorfismo Genético
/
ADN Mitocondrial
/
Análisis Mutacional de ADN
/
Química
/
Atrofias Ópticas Hereditarias
/
Reacción en Cadena de la Polimerasa
/
Genética
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Adolescente
/
Adulto
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2007
Tipo del documento:
Artículo
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