title: Frequency ofSMN1deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study.
abstract: Individuals who suffer from spinal muscular atrophy (SMA) exhibit progressive muscle weakness that frequently results in mortality in the most severe forms of the disease. In 98% of cases, there is a homozygous deletion of the survival of motor neuron 1 (SMN1) gene, and both parents carry the same heterozygous genetic abnormality in the majority of cases. Various population studies have been conducted to estimate the frequency of carriers and thereby identify the communities or countries in which children are at a high risk of being affected by SMA. However, the prevalence of SMA in Mexican populations has not yet been established. In the present pilot study, the frequency of the heterozygous deletion of theSMN1gene was determined in two groups from northeastern (n=287) and central (n=133) Mexican Mestizo populations and compared with other ethnic populations. Amplification refractory mutation system polymerase chain reaction analysis yielded a disease carrier frequency of 11/420 (2.62%) healthy individuals, comprising 9/287 (3.14%) northeastern and 2/133 (1.5%) central Mexican individuals. In summary, no significant differences were identified between the northeastern and central populations of Mexico and other ethnic populations, with the exception of the general worldwide Hispanic population, which exhibited the lowest carrier frequency of 8/1,030. The results of the present study may be used to improve the evaluation procedure, and appear to justify further studies involving larger sample populations.
authors.affiliation: Department of Genetics, Dr. Hideyo Noguchi Regional Research Center, Autonomous University of Yucatan, Mérida, Yucatán CP 97225, Mexico.
authors.forename: Silvina Noemi
authors.initials: SN
authors.lastname: Contreras-Capetillo
authors.affiliation: Department of Genetics, School of Medicine, Monterrey, Nuevo León CP 64460, Mexico.
authors.forename: Hugo Leonid Gallardo
authors.initials: HL
authors.lastname: Blanco
authors.affiliation: School of Nursing, Autonomous University of Nuevo León, Monterrey, Nuevo León CP 64460, Mexico.
authors.forename: Ricardo Martin
authors.initials: RM
authors.lastname: Cerda-Flores
authors.affiliation: Department of Genetics, School of Medicine, Monterrey, Nuevo León CP 64460, Mexico.
authors.forename: José
authors.initials: J
authors.lastname: Lugo-Trampe
authors.affiliation: Department of Genetics, School of Medicine, Monterrey, Nuevo León CP 64460, Mexico.
authors.forename: Iris
authors.initials: I
authors.lastname: Torres-Muñoz
authors.affiliation: Neuropediatrics, Central Hospital 'Dr. Ignacio Morones Prieto', San Luis Potosí CP 78240, Mexico.
authors.forename: Antonio
authors.initials: A
authors.lastname: Bravo-Oro
authors.affiliation: Department of Genetics, Central Hospital 'Dr. Ignacio Morones Prieto', San Luis Potosí CP 78240, Mexico.
authors.forename: Carmen
authors.initials: C
authors.lastname: Esmer
authors.affiliation: Department of Genetics, School of Medicine, Monterrey, Nuevo León CP 64460, Mexico.
authors.forename: Laura Ella Martínez
authors.initials: LE
authors.lastname: DE Villarreal
keywords: SMN1 gene; heterozygous carriers; hypotonic syndrome; neuromuscular diseases; spinal muscular atrophy type I