Open Access

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
  • View Affiliations

  • 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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June-2015
Volume 9 Issue 6

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Contreras‑Capetillo SN, Gallardo Blanco HL, Cerda‑Flores RM, Lugo‑Trampe J, Torres‑Muñoz I, Bravo‑Oro A, Esmer C and Martínez de Villarreal LE: Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study. Exp Ther Med 9: 2053-2058, 2015.
APA
Contreras‑Capetillo, S.N., Gallardo Blanco, H.L., Cerda‑Flores, R.M., Lugo‑Trampe, J., Torres‑Muñoz, I., Bravo‑Oro, A. ... Martínez de Villarreal, L.E. (2015). Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study. Experimental and Therapeutic Medicine, 9, 2053-2058. https://doi.org/10.3892/etm.2015.2436
MLA
Contreras‑Capetillo, S. N., Gallardo Blanco, H. L., Cerda‑Flores, R. M., Lugo‑Trampe, J., Torres‑Muñoz, I., Bravo‑Oro, A., Esmer, C., Martínez de Villarreal, L. E."Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study". Experimental and Therapeutic Medicine 9.6 (2015): 2053-2058.
Chicago
Contreras‑Capetillo, S. N., Gallardo Blanco, H. L., Cerda‑Flores, R. M., Lugo‑Trampe, J., Torres‑Muñoz, I., Bravo‑Oro, A., Esmer, C., Martínez de Villarreal, L. E."Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study". Experimental and Therapeutic Medicine 9, no. 6 (2015): 2053-2058. https://doi.org/10.3892/etm.2015.2436