Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.

Autor: Vázquez-Martínez ER; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México ; Department of Biology, Faculty of Chemistry, UNAM, Delegación Coyoacán, Distrito Federal C.P. 04510, México., Varela-Fascinetto G; Department of Transplantation, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México., García-Delgado C; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México., Rodríguez-Espino BA; Department of Nephrology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México., Sánchez-Boiso A; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México., Valencia-Mayoral P; Department of Pathology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México., Heller-Rosseau S; Department of Gastroenterology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México., Pelcastre-Luna EL; Department of Biochemistry, Faculty of Medicine, UNAM, Delegación Coyoacán, Distrito Federal C.P. 04510, México., Zenteno JC; Department of Biochemistry, Faculty of Medicine, UNAM, Delegación Coyoacán, Distrito Federal C.P. 04510, México ; Genetics Department and Research Unit, Institute of Ophthalmology 'Conde de Valenciana', Chimalpopoca 14 Colonia Obrera, Delegación Cuauhtémoc, Distrito Federal C.P. 06800, México., Cerbón M; Department of Biology, Faculty of Chemistry, UNAM, Delegación Coyoacán, Distrito Federal C.P. 04510, México., Morán-Barroso VF; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, Distrito Federal C.P. 06720, México.
Jazyk: angličtina
Zdroj: Meta gene [Meta Gene] 2013 Dec 08; Vol. 2, pp. 32-40. Date of Electronic Publication: 2013 Dec 08 (Print Publication: 2014).
DOI: 10.1016/j.mgene.2013.10.002
Abstrakt: Alagille syndrome is a multisystem disorder with an autosomic dominant pattern of inheritance that affects the liver, heart, eyes, kidneys, skeletal system and presents characteristic facial features. Mutations of the JAG1 gene have been identified in 20-89% of the patients with Alagille syndrome, this gene encodes for a ligand that activates the Notch signaling pathway. In the present study we analyzed 9 Mexican patients with Alagille syndrome who presented the clinical criteria for the classical presentation of the disease. By using the denaturing high performance liquid chromatography mutation analysis we were able to identify different mutations in 7 of the patients (77.77%), importantly, we found 5 novel mutations in JAG1 gene. The allelic frequency distribution of 13 polymorphisms in Mexican population is also reported. The overall results demonstrated an expanding mutational spectrum of JAG1 gene in the Mexican population.
Databáze: MEDLINE
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