Analysis of APC gene variants in a pedigree affected with familial adenomatous polyposis / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a pedigree affected with familial adenomatous polyposis (FAP).@*METHODS@#The proband, with recurrence of blood in the stool, was diagnosed with FAP by endoscopy, pathological examination and a family history. She was subjected to next generation sequencing to detect genetic variant. Suspected variant was verified by Sanger sequencing of members from her pedigree.@*RESULTS@#The proband, her mother and brother were found to carry a heterozygous c.532-1G>A variant of the APC gene, which may lead to aberrant splicing of mRNA resulting in a truncated protein, which may lose its normal function and promote the tumorigenesis. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.532-1G>A variant of APC gene was predicted to be pathogenic(PVS1+PP1+PP4+PP5).@*CONCLUSION@#The c.532-1G>A variant of the APC gene probably underlay the pathogenesis of FAP in this pedigree.

Diálogo y respeto: bases para la construcción de un sistema de salud intercultural para las comunidades indígenas de Puerto Nariño, Amazonas, Colombia / Dialogue and respect: the basis for constructing an intercultural health system for indigenous communities in Puerto Nariño, Amazonas, Colombia

Este artículo presenta las concepciones sobre salud-enfermedad y las propuestas en torno al sistema sanitario planteadas por las comunidades indígenas pertenecientes a las etnias Tikuna, Cocama y Yagua del municipio de Puerto Nariño en el departamento del Amazonas, Colombia. El estudio se realizó entre los años 2010 y 2013. Las herramientas utilizadas para obtener los datos fueron la observación participante, la entrevista y los grupos de discusión. La investigación evidenció falta de información y entendimiento muy profundos por parte de los organismos estatales de salud. Como demanda principal, las comunidades indígenas piden ser escuchadas cuando se tomen decisiones que afectan a su salud o a su manera de entenderla. Se espera que los resultados obtenidos sean tenidos en cuenta en la elaboración de futuros programas de salud y aporten una base para la construcción de un sistema de salud intercultural adecuado para el municipio de Puerto Nariño.

This paper presents the ideas on health and disease as well as proposals regarding the health care system voiced by indigenous communities belonging to the Tikunas, Cocama and Yagua ethnicities of the Puerto Nariño municipality in the department of Amazonas, Colombia. The study was conducted between 2010 and 2013. The tools used to obtain the data were participant observation, interviews and discussion groups. The study evidenced a profound lack of information and understanding on the part of state health agencies. As a principal demand, indigenous communities ask to be heard when decisions affecting their health or their way of understanding health are made. These results should be taken into account in the development of future health programs and provide a basis for the construction of an adequate intercultural health system for the town of Port Nariño.