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

Resultado de la investigación: Contribución a RevistaArtículo

1 Cita (Scopus)

Resumen

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. © 2007 Corporación Editora Médica del Valle.
Idioma originalEnglish (US)
Páginas (desde-hasta)352-356
Número de páginas5
PublicaciónColombia Medica
EstadoPublished - oct 1 2007

Huella dactilar

Colombia
Mutation Rate
Medical Students
Cystic Fibrosis
Mutation
Heteroduplex Analysis
Students
Heterozygote
Population
Chromosomes
Newborn Infant
Polymerase Chain Reaction
Incidence
Genes

Citar esto

Mateus, H. E., Fonseca, D. J., Sanchez, L. S., Peñaloza, I. F., Forero, D. V., Perdomo, P. A., ... Esparrogosa, C. L. (2007). Carrier frequency of F508del mutation of cystic fibrosis in medical students from Universidad del Rosario, Bogotá, Colombia. Colombia Medica, 352-356.
Mateus, Heidi Eliana ; Fonseca, Dora Janeth ; Sanchez, Lina S. ; Peñaloza, Iván F. ; Forero, Diana V. ; Perdomo, Pamela A. ; Quiasua, Diana C. ; Ramírez, Alexander ; Montoya, Laura C. ; Pérez, Luiz A. ; Amado, Hilda P. ; Molano, Jorge A. ; Amaya, Sergio A. ; Duran, María H. ; Cárdenas, Vanesa C. ; Guevara, Karen ; Parga, Diego A. ; Esparrogosa, Claudia L. / Carrier frequency of F508del mutation of cystic fibrosis in medical students from Universidad del Rosario, Bogotá, Colombia. En: Colombia Medica. 2007 ; pp. 352-356.
@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. {\circledC} 2007 Corporaci{\'o}n Editora M{\'e}dica del Valle.",
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.}",
year = "2007",
month = "10",
day = "1",
language = "English (US)",
pages = "352--356",
journal = "Colombia Medica",
issn = "0120-8322",
publisher = "Universidad del Valle",

}

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, pp. 352-356.

Carrier frequency of F508del mutation of cystic fibrosis in medical students from Universidad del Rosario, Bogotá, Colombia. / Mateus, Heidi Eliana; Fonseca, Dora Janeth; Sanchez, Lina S.; Peñaloza, Iván F.; Forero, Diana V.; Perdomo, Pamela A.; Quiasua, Diana C.; Ramírez, Alexander; Montoya, Laura C.; Pérez, Luiz A.; Amado, Hilda P.; Molano, Jorge A.; Amaya, Sergio A.; Duran, María H.; Cárdenas, Vanesa C.; Guevara, Karen; Parga, Diego A.; Esparrogosa, Claudia L.

En: Colombia Medica, 01.10.2007, p. 352-356.

Resultado de la investigación: Contribución a RevistaArtículo

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. © 2007 Corporación Editora Médica del Valle.

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. © 2007 Corporación Editora Médica del Valle.

M3 - Article

SP - 352

EP - 356

JO - Colombia Medica

JF - Colombia Medica

SN - 0120-8322

ER -