Genetic analysis of the SERPING1 gene in hereditary angioedema patients in Neiva, Colombia
Background: Hereditary angioedema due to the deficiency of a serum protein called C1-inhibitor (C1-INH) has a frequency of 1:10000 to 1:50000 in the general population, able to induce swelling of sudden onset in the face, neck, arms, with a duration that may last up to five days. These symptoms begi...
Main Authors: | , |
---|---|
Format: | Article |
Language: | Spanish |
Published: |
Colegio Mexicano de Inmunología Clínica y Alergia, A.C.
2018-06-01
|
Series: | Revista Alergia México |
Subjects: | |
Online Access: | http://revistaalergia.mx/ojs/index.php/ram/article/view/493 |
id |
doaj-17b99ed90eba4d2c93c3c9066f293a70 |
---|---|
record_format |
Article |
spelling |
doaj-17b99ed90eba4d2c93c3c9066f293a702020-11-25T02:05:09ZspaColegio Mexicano de Inmunología Clínica y Alergia, A.C.Revista Alergia México0002-51512448-91902018-06-0165 suppl 1120333Genetic analysis of the SERPING1 gene in hereditary angioedema patients in Neiva, ColombiaJairo Antonio Rodríguez0Carlos Fernando Narváez1Universidad Surcolombiana, Grupo de Parasitología y Medicina Tropical, NeivaUniversidad Surcolombiana, Grupo de Parasitología y Medicina Tropical, NeivaBackground: Hereditary angioedema due to the deficiency of a serum protein called C1-inhibitor (C1-INH) has a frequency of 1:10000 to 1:50000 in the general population, able to induce swelling of sudden onset in the face, neck, arms, with a duration that may last up to five days. These symptoms begin in childhood, worsen around puberty and persist throughout life. C1-INH is a member of the serpin family of serine protease inhibitors whose gene SERPING1 is in chromosome 11q12- q31 with eight exons and seven introns. Methods: 22 subjects were analyzed for mutation in the SERPING 1 gene by PCR (Centogene, Germany). C4, C1-INH concentrations and function were measure in all symptomatic individuals by nephelometry and ELISA, respectively. Results: Three SERPING mutations were identified for the first time in Colombian subjects: c.1081 C > T, p.Gln361, c. 106_107 C >G pArg466Gly, and c.1396 C > G pArg466Gly.http://revistaalergia.mx/ojs/index.php/ram/article/view/493hereditary angioedemagenetic analysis |
collection |
DOAJ |
language |
Spanish |
format |
Article |
sources |
DOAJ |
author |
Jairo Antonio Rodríguez Carlos Fernando Narváez |
spellingShingle |
Jairo Antonio Rodríguez Carlos Fernando Narváez Genetic analysis of the SERPING1 gene in hereditary angioedema patients in Neiva, Colombia Revista Alergia México hereditary angioedema genetic analysis |
author_facet |
Jairo Antonio Rodríguez Carlos Fernando Narváez |
author_sort |
Jairo Antonio Rodríguez |
title |
Genetic analysis of the SERPING1 gene in hereditary angioedema patients in Neiva, Colombia |
title_short |
Genetic analysis of the SERPING1 gene in hereditary angioedema patients in Neiva, Colombia |
title_full |
Genetic analysis of the SERPING1 gene in hereditary angioedema patients in Neiva, Colombia |
title_fullStr |
Genetic analysis of the SERPING1 gene in hereditary angioedema patients in Neiva, Colombia |
title_full_unstemmed |
Genetic analysis of the SERPING1 gene in hereditary angioedema patients in Neiva, Colombia |
title_sort |
genetic analysis of the serping1 gene in hereditary angioedema patients in neiva, colombia |
publisher |
Colegio Mexicano de Inmunología Clínica y Alergia, A.C. |
series |
Revista Alergia México |
issn |
0002-5151 2448-9190 |
publishDate |
2018-06-01 |
description |
Background: Hereditary angioedema due to the deficiency of a serum protein called C1-inhibitor (C1-INH) has a frequency of 1:10000 to 1:50000 in the general population, able to induce swelling of sudden onset in the face, neck, arms, with a duration that may last up to five days. These symptoms begin in childhood, worsen around puberty and persist throughout life. C1-INH is a member of the serpin family of serine protease inhibitors whose gene SERPING1 is in chromosome 11q12- q31 with eight exons and seven introns.
Methods: 22 subjects were analyzed for mutation in the SERPING 1 gene by PCR (Centogene, Germany). C4, C1-INH concentrations and function were measure in all symptomatic individuals by nephelometry and ELISA, respectively.
Results: Three SERPING mutations were identified for the first time in Colombian subjects: c.1081 C > T, p.Gln361, c. 106_107 C >G pArg466Gly, and c.1396 C > G pArg466Gly. |
topic |
hereditary angioedema genetic analysis |
url |
http://revistaalergia.mx/ojs/index.php/ram/article/view/493 |
work_keys_str_mv |
AT jairoantoniorodriguez geneticanalysisoftheserping1geneinhereditaryangioedemapatientsinneivacolombia AT carlosfernandonarvaez geneticanalysisoftheserping1geneinhereditaryangioedemapatientsinneivacolombia |
_version_ |
1724939663768027136 |