Analysis of ELN gene mutation in a pedigree affected with cutis laxa / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 785-788, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-776806
ABSTRACT
OBJECTIVE@#To carry out genetic diagnosis for a pedigree affected with cutis laxa.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from members of the pedigree and 50 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and verified by Sanger sequencing.@*RESULTS@#A heterozygous c.1985delG mutation was identified in the ELN gene among all patients from this pedigree. The same mutation was not found among unaffected family members and 50 healthy controls.@*CONCLUSION@#The genetic etiology for the pedigree has been elucidated, which has enabled genetic counseling and guidance for reproduction.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Elastina
/
Cútis Laxa
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Genética
/
Heterozigoto
/
Mutação
Tipo de estudo:
Guia de Prática Clínica
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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