Consulta: creatorFacets:"Ghosh,Sujay"
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Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births
Provedor de dados: 74
Autores: Bhaumik,Pranami; Ghosh,Priyanka; Ghosh,Sujay; Feingold,Eleanor; Ozbek,Umut; Sarkar,Biswanath; Dey,Subrata Kumar.
Abstract 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...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Chromosome; Genetic polymorphism; Karyotype; Meiosis; Microsatellite markers.
Ano: 2017
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000400577