Carrier frequency of F508del mutation of cystic fibrosis in medical students from Universidad del Rosario, Bogotá, Colombia

Heidi Eliana Mateus; Dora Janeth Fonseca; Lina S. Sanchez; Iván F. Peñaloza; Diana V. Forero; Pamela A. Perdomo; Diana C. Quiasua; Alexander Ramírez; Laura C. Montoya; Luiz A. Pérez; Hilda P. Amado; Jorge A. Molano; Sergio A. Amaya; María H. Duran; Vanesa C. Cárdenas; Karen Guevara; Diego A. Parga; Claudia L. Esparrogosa

doi:10.25100/cm.v38i4.519

Carrier frequency of F508del mutation of cystic fibrosis in medical students from Universidad del Rosario, Bogotá, Colombia

Título traducido de la contribución: Frecuencia de portadores de la mutación F508del de fibrosis quística en estudiantes de medicina de la Universidad del Rosario, Bogotá, Colombia

Heidi Eliana Mateus
, Dora Janeth Fonseca
, Lina S. Sanchez
, Iván F. Peñaloza
, Diana V. Forero
, Pamela A. Perdomo
, Diana C. Quiasua
, Alexander Ramírez
, Laura C. Montoya
, Luiz A. Pérez
, Hilda P. Amado
, Jorge A. Molano
, Sergio A. Amaya
, María H. Duran
, Vanesa C. Cárdenas
, Karen Guevara
, Diego A. Parga
, Claudia L. Esparrogosa

Producción científica: Contribución a revista › Artículo de Investigación › revisión exhaustiva

1 Cita (Scopus)

Resumen

Introducción: La fibrosis quística (FQ) es el trastorno autosómico recesivo más frecuente en la población caucásica con una incidencia de 1 en 2000 recién nacidos. La enfermedad es causada por mutaciones en el gen cftr, pero la mutación más común es F508del, que representa el 66% de los cromosomas de la FQ en todo el mundo y una frecuencia de portadores para la población caucásica de 1 en 25. Objetivo: Determinar la frecuencia de portadores
del F508del mutación en 110 estudiantes sanos y no emparentados de la Facultad de Medicina de la Universidad del Rosario.
Métodos: Se determinó la presencia de la mutación F508del mediante PCR y análisis heterodúplex.
Resultados: Sólo se descubrieron cuatro heterocigotos para la mutación F508del. Esto representa una frecuencia portadora de 1 de cada 27 estudiantes.
Conclusiones: Esta frecuencia estimada de portadores de F508del es mayor de lo esperado, lo que fomenta una mayor detección en individuos de control normales de diferentes regiones de Colombia.

Título traducido de la contribución	Frecuencia de portadores de la mutación F508del de fibrosis quística en estudiantes de medicina de la Universidad del Rosario, Bogotá, Colombia
Idioma original	Inglés estadounidense
Páginas (desde-hasta)	352-356
Número de páginas	5
Publicación	Colombia Medica
Volumen	38
N.º	4
DOI	https://doi.org/10.25100/cm.v38i4.519
Estado	Publicada - oct. 1 2007

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ODS 3: Salud y bienestar

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Genética (clínica)

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Mateus, H. E., Fonseca, D. J., Sanchez, L. S., Peñaloza, I. F., Forero, D. V., Perdomo, P. A., Quiasua, D. C., Ramírez, A., Montoya, L. C., Pérez, L. A., Amado, H. P., Molano, J. A., Amaya, S. A., Duran, M. H., Cárdenas, V. C., Guevara, K., Parga, D. A., & Esparrogosa, C. L. (2007). Carrier frequency of F508del mutation of cystic fibrosis in medical students from Universidad del Rosario, Bogotá, Colombia. Colombia Medica, 38(4), 352-356. https://doi.org/10.25100/cm.v38i4.519

@article{d45cc82375924702a5148737f3d1831a,

title = "Carrier frequency of F508del mutation of cystic fibrosis in medical students from Universidad del Rosario, Bogot{\'a}, Colombia",

abstract = "Introduction: Cystic fibrosis (CF) is the most frequent autosomical recessive disorder in Caucasian population with an incidence of in 2000 newborns. The disease is caused by mutations in the cfr gene, but the most common mutation is F508del, which accounts for 66\% of CF chromosomes worldwide and a carrier frequency for Caucasian population of 1 in 25. Objective: To determine the carrier frequency of the F508del mutation in 110 unrelated, healthy students from the Facultad de Medicina, Universidad del Rosario. Methods. The presence of F508del mutation using PCR and heteroduplex analysis was determined. Results: Only four heterozygotes for F508del mutation were discovered. This represents a carrier frequency of 1 in 27 students. Conclusions: This estimated frequency of F508del carriers is higher than expected, encouraging further'screening in normal control individuals from different regions of Colombia.",

author = "Mateus, \{Heidi Eliana\} and Fonseca, \{Dora Janeth\} and Sanchez, \{Lina S.\} and Pe{\~n}aloza, \{Iv{\'a}n F.\} and Forero, \{Diana V.\} and Perdomo, \{Pamela A.\} and Quiasua, \{Diana C.\} and Alexander Ram{\'i}rez and Montoya, \{Laura C.\} and P{\'e}rez, \{Luiz A.\} and Amado, \{Hilda P.\} and Molano, \{Jorge A.\} and Amaya, \{Sergio A.\} and Duran, \{Mar{\'i}a H.\} and C{\'a}rdenas, \{Vanesa C.\} and Karen Guevara and Parga, \{Diego A.\} and Esparrogosa, \{Claudia L.\}",

note = "{\textcopyright} 2007 Corporaci{\'o}n Editora M{\'e}dica del Valle.",

year = "2007",

month = oct,

day = "1",

doi = "10.25100/cm.v38i4.519",

language = "English (US)",

volume = "38",

pages = "352--356",

journal = "Colombia Medica",

issn = "0120-8322",

publisher = "Universidad del Valle",

number = "4",

}

Mateus, HE, Fonseca, DJ, Sanchez, LS, Peñaloza, IF, Forero, DV, Perdomo, PA, Quiasua, DC, Ramírez, A, Montoya, LC, Pérez, LA, Amado, HP, Molano, JA, Amaya, SA, Duran, MH, Cárdenas, VC, Guevara, K, Parga, DA & Esparrogosa, CL 2007, 'Carrier frequency of F508del mutation of cystic fibrosis in medical students from Universidad del Rosario, Bogotá, Colombia', Colombia Medica, vol. 38, n.º 4, pp. 352-356. https://doi.org/10.25100/cm.v38i4.519

TY - JOUR

T1 - Carrier frequency of F508del mutation of cystic fibrosis in medical students from Universidad del Rosario, Bogotá, Colombia

AU - Mateus, Heidi Eliana

AU - Fonseca, Dora Janeth

AU - Sanchez, Lina S.

AU - Peñaloza, Iván F.

AU - Forero, Diana V.

AU - Perdomo, Pamela A.

AU - Quiasua, Diana C.

AU - Ramírez, Alexander

AU - Montoya, Laura C.

AU - Pérez, Luiz A.

AU - Amado, Hilda P.

AU - Molano, Jorge A.

AU - Amaya, Sergio A.

AU - Duran, María H.

AU - Cárdenas, Vanesa C.

AU - Guevara, Karen

AU - Parga, Diego A.

AU - Esparrogosa, Claudia L.

PY - 2007/10/1

Y1 - 2007/10/1

N2 - Introduction: Cystic fibrosis (CF) is the most frequent autosomical recessive disorder in Caucasian population with an incidence of in 2000 newborns. The disease is caused by mutations in the cfr gene, but the most common mutation is F508del, which accounts for 66% of CF chromosomes worldwide and a carrier frequency for Caucasian population of 1 in 25. Objective: To determine the carrier frequency of the F508del mutation in 110 unrelated, healthy students from the Facultad de Medicina, Universidad del Rosario. Methods. The presence of F508del mutation using PCR and heteroduplex analysis was determined. Results: Only four heterozygotes for F508del mutation were discovered. This represents a carrier frequency of 1 in 27 students. Conclusions: This estimated frequency of F508del carriers is higher than expected, encouraging further'screening in normal control individuals from different regions of Colombia.

AB - Introduction: Cystic fibrosis (CF) is the most frequent autosomical recessive disorder in Caucasian population with an incidence of in 2000 newborns. The disease is caused by mutations in the cfr gene, but the most common mutation is F508del, which accounts for 66% of CF chromosomes worldwide and a carrier frequency for Caucasian population of 1 in 25. Objective: To determine the carrier frequency of the F508del mutation in 110 unrelated, healthy students from the Facultad de Medicina, Universidad del Rosario. Methods. The presence of F508del mutation using PCR and heteroduplex analysis was determined. Results: Only four heterozygotes for F508del mutation were discovered. This represents a carrier frequency of 1 in 27 students. Conclusions: This estimated frequency of F508del carriers is higher than expected, encouraging further'screening in normal control individuals from different regions of Colombia.

U2 - 10.25100/cm.v38i4.519

DO - 10.25100/cm.v38i4.519

M3 - Research Article

SN - 0120-8322

VL - 38

SP - 352

EP - 356

JO - Colombia Medica

JF - Colombia Medica

IS - 4

ER -

Carrier frequency of F508del mutation of cystic fibrosis in medical students from Universidad del Rosario, Bogotá, Colombia

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