| Revista: | Genetics and molecular biology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000410343 |
| ISSN: | 1415-4757 |
| Autores: | Bhaumik, Pranami1 Ghosh, Priyanka1 Ghosh, Sujay2 Feingold, Eleanor3 Ozbek, Umut3 Sarkar, Biswanath4 Dey, Subrata Kumar1 |
| Instituciones: | 1Maulana Abul Kalam Azad University of Technology, School of Biotechnology and Biological Sciences, Calcuta, Bengala Occidental. India 2University of Calcutta, Ballygunge Science College Campus, Calcuta, Bengala Occidental. Brasil 3University of Pittsburgh, Graduate School of Public Health, Pittsburgh, Pensilvania. Estados Unidos de América 4Anthropological Survey of India, DNA Laboratory, Calcuta, Bengala Occidental. India |
| Año: | 2017 |
| Periodo: | Sep |
| Volumen: | 40 |
| Número: | 3 |
| Paginación: | 577-585 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Experimental, aplicado |
| Resumen en inglés | Alzheimer's disease and Down syndrome often exhibit close association and predictively share common genetic risk-factors. Presenilin-1 (PSEN-1) and Apolipoprotein E (APOE) genes are associated with early and late onset of Alzheimer's disease, respectively. Presenilin −1 is involved in faithful chromosomal segregation. A higher frequency of the APOE ε4 allele has been reported among young mothers giving birth to Down syndrome children. In this study, 170 Down syndrome patients, grouped according to maternal meiotic stage of nondisjunction and maternal age at conception, and their parents were genotyped for PSEN-1 intron-8 and APOE polymorphisms. The control group consisted of 186 mothers of karyotypically normal children. The frequencies of the PSEN-1 T allele and TT genotype, in the presence of the APOE ε4 allele, were significantly higher among young mothers (< 35 years) with meiosis II nondisjunction than in young control mothers (96.43% vs. 65.91% P = 0.0002 and 92.86% vs. 45.45% P < 0.0001 respectively) but not among mothers with meiosis I nondisjunction. We infer that the co-occurrence of the PSEN-1 T allele and the APOE ε4 allele associatively increases the risk of meiotic segregation error II among young women |
| Disciplinas: | Medicina |
| Palabras clave: | Genética, Polimorfismo genético, Marcadores microsatélites, Presenelina-1, Apolipoproteína E, Síndrome de Down, Enfermedad de Alzheimer |
| Keyword: | Medicine, Genetics, Genetic polymorphism, Microsatellite markers, Presenilin-1, Apolipoprotein E, Down syndrome, Alzheimer disease |
| Texto completo: | Texto completo (Ver HTML) |
