Analysis of ADAR1 gene mutation in a pedigree affected with dyschromatosis symmetrical hereditaria / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 393-396, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-688228
ABSTRACT
<p><b>OBJECTIVE</b>To detect mutation of adenosine deaminase acting on RNA1 (ADAR1) gene in a pedigree affected with dyschromatosis symmetrical hereditaria (DSH).</p><p><b>METHODS</b>Clinical data and peripheral blood samples of the patients from the pedigree were collected. Potential mutations of the ADAR1 gene were screened among 2 patients, 2 unaffected individual from the pedigree as well as 50 unrelated healthy controls by PCR amplification and direct sequencing.</p><p><b>RESULTS</b>A c.3463C>T (p.R1155W) missense mutation of the ADAR gene was identified in the 2 patients, which was absent in the 2 healthy relatives and 50 unrelated controls. The mutation has been previously identified among 5 Chinese families and was the most common mutation site.</p><p><b>CONCLUSION</b>The c.3463C>T missense mutation of the ADAR gene probably underlies the disease in this pedigree.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2018
Tipo de documento:
Artigo
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