RESUMO
PURPOSE: The Mexican Jewish community (MJC) is a previously uncharacterized, genetically isolated group composed of Ashkenazi and Sephardi-Mizrahi Jews who migrated in the early 1900s. We aimed to determine the heterozygote frequency of disease-causing variants in 302 genes in this population. METHODS: We conducted a cross-sectional study of the MJC involving individuals representing Ashkenazi Jews, Sephardi-Mizrahi Jews, or mixed-ancestry Jews. We offered saliva-based preconception pan-ethnic expanded carrier screening, which examined 302 genes. We analyzed heterozygote frequencies of pathogenic/likely pathogenic variants and compared them with those in the Genome Aggregation Database (gnomAD). RESULTS: We recruited 208 participants. The carrier screening results showed that 72.1% were heterozygous for at least 1 severe disease-causing variant in 1 of the genes analyzed. The most common genes with severe disease-causing variants were CFTR (16.8% of participants), MEFV (11.5%), WNT10A (6.7%), and GBA (6.7%). The allele frequencies were compared with those in the gnomAD; 85% of variant frequencies were statistically different from those found in gnomAD (P <.05). Finally, 6% of couples were at risk of having a child with a severe disorder. CONCLUSION: The heterozygote frequency of at least 1 severe disease-causing variant in the MJC was 72.1%. The use of carrier screening in the MJC and other understudied populations could help parents make more informed decisions.
Assuntos
Etnicidade , Judeus , Criança , Estudos Transversais , Frequência do Gene/genética , Triagem de Portadores Genéticos/métodos , Testes Genéticos , Heterozigoto , Humanos , Judeus/genética , Pirina/genéticaRESUMO
Objective: To assess the lack of knowledge about Type 2 Diabetes Mellitus in the student population of Anahuac University Mexico North Campus (UAMN). Materials and Methods: An observational, transversal study was conducted from February to April 2017. A 19-question survey based on the study by Al-Sararyra and colleagues in Jordan was applied to 300 students aged 18-25. Results: The lack of knowledge about the disease was made evident, especially its signs, symptoms and complications. The majority of students knew the risk factors of the disease. Information about the disease was obtained by the students mostly through family members or school education. Conclusion: The study shows a lack of knowledge in a high education institution about one of the most important diseases in the country. An educational intervention is necessary to increase their knowledge of the disease for students to take part in preventive measures.
Objetivo: Evaluar la falta de conocimiento sobre la Diabetes Mellitus tipo 2 en una población estudiantil de alto nivel de la Universidad Anáhuac México Campus Norte (UAMN). Material y Métodos: Estudio transversal y observacional, realizado de febrero a abril de 2017. Se realizaron encuestas de 19 preguntas a 300 alumnos de 18 a 25 años, basada en el trabajo de Al-Sarayra y colaboradores en la Universidad Al-Balqa en Jordania. Resultados: Se evidenció la falta de conocimiento sobre la enfermedad, especialmente sobre signos, síntomas y complicaciones. Los mayoría de los alumnos conocía los factores predisponentes. La educación escolar y los familiares fueron las principales fuentes de información para la enfermedad. Conclusión: Se refleja la carencia de conocimiento, entre alumnos con educación básica completa y aspirando a licenciaturas, sobre una de las enfermedades más importantes a nivel internacional. Una intervención educativa es necesaria para que tengan más información sobre la enfermedad y así tomen las medidas preventivas necesarias.
