title: Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy.
abstract: Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disorder in which the detection of female carriers is of the utmost importance for genetic counseling. Haplotyping with polymorphic markers and quantitation of creatine kinase levels (CK) allow tracking of the at-risk haplotype and evidence muscle damage, respectively. Such approaches are useful for carrier detection in cases of unknown mutations. The lack of informative markers and the inaccuracy of CK affect carrier detection. Therefore, herein we designed novel mini-STR (Short Tandem Repeats) assays to amplify 10 loci within the DMD gene and estimated allele frequencies and the polymorphism information content among other parameters in 337 unrelated individuals from three Mexican populations. In addition, we tested the utility of the assays for carrier detection in three families. Moreover, given that serum levels of miR-206 discern between DMD patients and controls with a high area under the curve (AUC), the potential applicability for carrier detection was assessed. The serum levels of miR-206 of non-carriers (n = 24) and carriers (n = 23) were compared by relative quantitation using real-time PCR (p < 0.05), which resulted in an AUC = 0.80 in the Receiver Operating Characteristic curve analysis. In conclusion, miR-206 has potential as a "liquid biopsy" for carrier detection and genetic counseling in DMD.
authors.affiliation: Center for Research and Assistance in Technology and Design of the State of Jalisco (CIATEJ, A.C.), Guadalajara 44270, Mexico. monica207383614@gmail.com.|Asociación de Distrofia Muscular de Occidente A.C., Guadalajara 44380, Mexico. monica207383614@gmail.com.
authors.forename: Mónica Alejandra
authors.initials: MA
authors.lastname: Anaya-Segura
authors.affiliation: Centro Universitario de la Ciénega, Universidad de Guadalajara, Ocotlán 47820, Mexico. hrangel@cuci.udg.mx.
authors.forename: Héctor
authors.initials: H
authors.lastname: Rangel-Villalobos
authors.affiliation: Centro Universitario de la Ciénega, Universidad de Guadalajara, Ocotlán 47820, Mexico. gaby_ed15@yahoo.com.mx.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Martínez-Cortés
authors.affiliation: National Center for Research and Care in Sports Medicine, National Institute of Rehabilitation, México City 14389, Mexico. bngomez@inr.gob.mx.
authors.forename: Benjamín
authors.initials: B
authors.lastname: Gómez-Díaz
authors.affiliation: Section of Postgraduate Studies and Research, Superior School of Medicine, National Polytechnic Institute, México City 11340, Mexico. rcoral@ipn.mx.
authors.forename: Ramón Mauricio
authors.initials: RM
authors.lastname: Coral-Vázquez
authors.affiliation: Centro Universitario del Norte, Universidad de Guadalajara, Colotlán 46200, Mexico. edgar.zamora@cunorte.udg.mx.
authors.forename: Edgar Oswaldo
authors.initials: EO
authors.lastname: Zamora-González
authors.affiliation: Servicio de Investigación Clínica, Centro Médico Nacional "20 de Noviembre", Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, México City 03100, Mexico. rolasil@yahoo.com.mx.
authors.forename: Silvia
authors.initials: S
authors.lastname: García
authors.affiliation: División de Investigación Biomédica, Centro Médico Nacional "20 de Noviembre", Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, México City 03100, Mexico. lblhmedgen@gmail.com.
authors.forename: Luz Berenice
authors.initials: LB
authors.lastname: López-Hernández
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D020090:Chromosome Segregation / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008800:Mexico; D035683:MicroRNAs / Q000097:blood* / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics*; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000097:blood* / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
chemical_list: C546087:MIRN206 microRNA, human; D035683:MicroRNAs
keywords: DMD; carrier detection; liquid biopsy; microRNA-206; mini-STR