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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Elastina
/
Cutis Laxo
/
Secuenciación de Nucleótidos de Alto Rendimiento
/
Genética
/
Heterocigoto
/
Mutación
Tipo de estudio:
Guía de Práctica Clínica
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS