Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study

Contreras‑Capetillo,Silvina  Noemi; Gallardo Blanco,Hugo   Leonid; Cerda‑Flores,Ricardo  Martin; Lugo‑Trampe,José; Torres‑Muñoz,Iris; Bravo‑Oro,Antonio; Esmer,Carmen; Martínez de Villarreal,Laura  Ella

doi:10.3892/etm.2015.2436

Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study

Authors:
- Silvina Noemi Contreras‑Capetillo
- Hugo Leonid Gallardo Blanco
- Ricardo Martin Cerda‑Flores
- José Lugo‑Trampe
- Iris Torres‑Muñoz
- Antonio Bravo‑Oro
- Carmen Esmer
- Laura Ella Martínez de Villarreal
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Affiliations: Department of Genetics, Dr. Hideyo Noguchi Regional Research Center, Autonomous University of Yucatan, Mérida, Yucatán CP 97225, Mexico, Department of Genetics, School of Medicine, Autonomous University of Nuevo León, Monterrey, Nuevo León CP 64460, Mexico, School of Nursing, Autonomous University of Nuevo León, Monterrey, Nuevo León CP 64460, Mexico, Department of Neuropediatrics, Central Hospital ‘Dr. Ignacio Morones Prieto’, San Luis Potosí CP 78240, Mexico, Department of Genetics, Central Hospital ‘Dr. Ignacio Morones Prieto’, San Luis Potosí CP 78240, Mexico
Published online on: April 20, 2015 https://doi.org/10.3892/etm.2015.2436
Pages: 2053-2058
Copyright: © Contreras‑Capetillo et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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 the SMN1 gene 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.

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