Frequency of {SMN}1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study

Contreras Capetillo, Silvina Noemi y Blanco, Hugo Leonid Gallardo y Cerda Flores, Ricardo Martín y Lugo Trampe, José de Jesús y Torres Muñoz, Iris Carmen y Bravo Oro, Antonio y Esmer, Carmen y De Villarreal, Laura Ella Martinez (2015) Frequency of {SMN}1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study. Experimental and Therapeutic Medicine, 9 (6). pp. 2053-2058. ISSN 1792-0981, 1792-1015

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Resumen

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 ({SMN}1) 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 {SMN}1 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.

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