Determinación de endogamia mediante método de isonimia en la población de Runta, Boyacá, Colombia

Pacheco-Orozco, Rafael Adrián; Torres, Leandra; Velasco, Harvy

doi:10.15446/revfacmed.v67n2.68878

Cited by 4 publications

(2 citation statements)

References 16 publications

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“…Gómez et al 10 suggested consanguinity as a cause for the high presence of MPS in Boyacá. Pacheco‐Orozco et al 35 analyzed the high incidence of rare diseases in this department, finding that there is indeed an increased inbreeding rate and therefore this population may be genetically isolated.…”

Section: Resultsmentioning

confidence: 99%

“…Therefore, patients have more possibilities of being transferred to a medical center or sending their samples to a nearby laboratory under optimal conservation and time conditions. G omez et al 10 suggested consanguinity as a cause for the high presence of MPS in Boyac a. Pacheco-Orozco et al 35 analyzed the high incidence of rare diseases in this department, finding that there is indeed an increased inbreeding rate and therefore this population may be genetically isolated.…”

Section: Distribution and Incidence Of Mps In Colombiamentioning

confidence: 99%

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Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis

2022

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Mucopolysaccharidoses (MPSs) are a group of genetic alterations whose effect is the progressive intralysosomal accumulation of glycosaminoglycans. Affected individuals are deficient in one or more lysosomal enzymes which, depending on the MPS, may cause coarse facial features, short stature, multiple skeletal dysplasia, joint stiffness, or developmental delay. Their diagnosis is mostly performed late or incorrectly, and it represents a challenge since it requires specialized tests only performed in major cities. This makes it difficult for patients to have access to physicians since their geographical location is distant and therefore, the use of samples collected in solid‐phase represents an advantage for the study of high‐risk populations. In addition, epidemiological information about rare diseases, especially in Latin America, is scarce or inconsistent. Our aim was to report the experience of 20 years of selective screening by assessing enzyme activity and reporting incidence values of MPS in Colombia. This study validated a group of fluorometric endpoint techniques in 8239 patients. The samples were dried blood spots (DBS) collected on filter paper and leukocyte extracts. Reference values in the Colombian population for α‐ l ‐iduronidase, iduronate 2‐sulfatase, α‐ N ‐acetylglucosaminidase, N ‐acetylglucosamine‐6‐sulfate sulfatase, β‐galactosidase, arylsulfatase B, and β‐glucuronidase were established in leukocyte extracts, and patients reference ranges were updated in the case of DBS samples. Incidence values were calculated for each MPS and the distribution of cases across the country is also shown. This study offers very useful information for the health system, the scientific community, and it facilitates the diagnosis of these disorders. This is indispensable when seeking to develop new diagnostic or treatment approaches for patients.

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Section: Resultsmentioning

confidence: 99%

Section: Distribution and Incidence Of Mps In Colombiamentioning

confidence: 99%

Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis

2022

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An invincible memory: what surname analysis tells us about history, health and population medical genetics in the Brazilian Northeast

et al. 2020

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Several studies have shown that the Brazilian Northeast is a region with high rates of inbreeding as well as a high incidence of autosomal recessive diseases. The elaboration of public health policies focused on the epidemiological surveillance of congenital anomalies and rare genetic diseases in this region is urgently needed. However, the vast territory, socio-demographic heterogeneity, economic difficulties and low number of professionals with expertise in medical genetics make strategic planning a challenging task. Surnames can be compared to a genetic system with multiple neutral alleles and allow some approximation of population structure. Here, surname analysis of more than 37 million people was combined with health and socio-demographic indicators covering all 1794 municipalities of the nine states of the region. The data distribution showed a heterogeneous spatial pattern (Global Moran Index, GMI = 0.58; p < 0.001), with higher isonymy rates in the east of the region and the highest rates in the Quilombo dos Palmares region – the largest conglomerate of escaped slaves in Latin America. A positive correlation was found between the isonymy index and the frequency of live births with congenital anomalies (r = 0.268; p < 0.001), and the two indicators were spatially correlated (GMI = 0.50; p < 0.001). With this approach, quantitative information on the genetic structure of the Brazilian Northeast population was obtained, which may represent an economical and useful tool for decision-making in the medical field.

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Estimación de la consanguinidad mediante isonimia marital en la comunidad maya de Chicán, Yucatán, México

Taño Portuondo,

García González,

Estrella Castillo

et al. 2024

Rev. Mus. Antrop.

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Chicán es una pequeña comunidad rural de origen maya ubicada en la península de Yucatán, conocida como “el pueblo de los sordos” por la alta prevalencia de sordera profunda. El objetivo de este estudio fue determinar el coeficiente de consanguinidad en la comunidad de Chicán utilizando el método de isonimia marital como estrategia para explicar la estructura poblacional y la alta prevalencia de sordera congénita profunda. El registro de los datos se realizó mediante encuestas a 219 individuos residentes de Chicán. Se registraron 40 apellidos diferentes, de ellos 30 son de origen maya. El 23,3% de la muestra presentó apellidos isonímicos, siendo Collí (94,1%) el más frecuente. La consanguinidad total observada fue de 0,0585, mientras que el componente aleatorio (Fr = 0,0571) fue 38 veces mayor que el componente no aleatorio (Fn = 0,0015). Se registraron 18 personas con sordera congénita profunda, de las cuales 11 fueron isonímicas para el apellido Collí. Los resultados indican que las uniones consanguíneas en Chicán se deben principalmente al pequeño tamaño de la población y a su relativo aislamiento. La alta prevalencia de sordera profunda en Chicán puede ser consecuencia de la consanguinidad, la cual predispone a la aparición de trastornos hereditarios recesivos.

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Determinación de endogamia mediante método de isonimia en la población de Runta, Boyacá, Colombia

Cited by 4 publications

References 16 publications

Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis

Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis

An invincible memory: what surname analysis tells us about history, health and population medical genetics in the Brazilian Northeast

Estimación de la consanguinidad mediante isonimia marital en la comunidad maya de Chicán, Yucatán, México

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