A novel mutation of GLI3 gene underlying synpolydactyly in a family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 490-493, 2017.
Article
em Zh
| WPRIM
| ID: wpr-335098
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To detect mutation of GLI3 gene in a family affected with autosomal dominant synpolydactyly.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples from members of the family and 100 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and confirmed by Sanger sequencing.</p><p><b>RESULTS</b>A heterozygous frameshift mutation c.480dupC was identified in the GLI3 gene among all patients from the family. The same mutation was not found in unaffected family members and the 100 healthy controls.</p><p><b>CONCLUSION</b>The c.480dupC of the GLI3 gene probably underlies the synpolydactyly in this family.</p>
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Índice:
WPRIM
Assunto principal:
Linhagem
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Sequência de Aminoácidos
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Sindactilia
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Proteína Gli3 com Dedos de Zinco
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Genética
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Mutação
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Proteínas do Tecido Nervoso
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Article