Study of angiopoietin and plasminogen genes in hereditary angioedema
| Autor: | Tatielly Kruk, Liya Regina Mikami, Nelson Augusto Rosário Filho, Lilian Pereira Ferrari, Marina Mendonça Dias, Luisa Karla de Paula Arruda, Adriana S. Moreno, Herberto José Chong-Neto, Wagner Narciso de Campos |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Medicine (General) Adolescent Single-nucleotide polymorphism Gene mutation Biology Bradykinin Polymerase Chain Reaction law.invention 03 medical and health sciences Exon symbols.namesake Young Adult R5-920 0302 clinical medicine law Angiopoietin-1 medicine Humans Child Polymerase chain reaction 030304 developmental biology Sanger sequencing 0303 health sciences Angioedemas Hereditary Plasminogen General Medicine Middle Aged medicine.disease DNA extraction Molecular biology 030228 respiratory system Agarose gel electrophoresis Hereditary angioedema Mutation symbols Female Angiopoietins Complement C1 Inhibitor Protein |
| Zdroj: | Revista da Associação Médica Brasileira, Vol 66, Iss 4, Pp 502-506 (2020) Revista da Associação Médica Brasileira v.66 n.4 2020 Revista da Associação Médica Brasileira Associação Médica Brasileira (AMB) instacron:AMB |
| ISSN: | 1806-9282 |
| Popis: | SUMMARY OBJECTIVE To investigate the presence of the Angiopoietin 1 (ANGPT1) and Plasminogen (PLG) mutations in patients with Hereditary Angioedema (HAE) and normal C1 esterase inhibitor (C1-INH) levels, who do not harbor the F12 gene mutation. METHODS Patients clinically diagnosed with HAE but without C1-INH deficiency or dysfunction and F12 gene mutation were evaluated. DNA extraction, quantification, and dilution were performed at a concentration of 100 ng/µL, followed by a DNA amplification (PCR) for molecular evaluation of exon 2 of the ANGPT1 gene and exon 9 of the PLG gene for identification of mutations c.807G>T / p.A119S and c.988A>G / p.K330E, respectively. The PCR product was evaluated in 1% agarose gel electrophoresis. Sequencing was performed using the Sanger method. The electropherograms were analyzed using the FASTA® program. RESULTS DNA samples from 15 women were sequenced. Their ages ranged from 10 to 60 years and the normal C1 esterase and C4 inhibitor serum levels ranged from 22 to 39 mg/dL and from 10 to 40 mg/dL, respectively. No mutations were detected in the analyzed exons of ANGPT1 and PLG. However, a single-nucleotide polymorphism (SNP) was detected in two homozygotic and five heterozygotic patients. CONCLUSION Further studies are needed to evaluate these SNPs and scrutinize their potential for use as molecular markers of HAE and as novel therapeutic targets. |
| Databáze: | OpenAIRE |
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