RESUMO
More than 40 human diseases, mainly diseases affecting the central nervous system, are caused by the expansion of unstable nucleotide repeats. Repeats of sequences like (CAG)n present in different genes can be responsible for various diseases of the central nervous system. An expanded hexanucleotide repeat (GGGGCC)n in the C9ORF72 gene has been characterized as the most frequent genetic cause of amyotrophic lateral sclerosis and frontotemporal lobar dementia. In this study, we performed a genome-wide analysis in the human genome and identified 74 genes containing this precise hexanucleotide repeat, with a preference for a location in exon 1 or intron 1, similar to the C9ORF72 gene. A total of 36 of these 74 genes may be of interest as candidates in neurodevelopmental or neurodegenerative diseases, based on their function.
Assuntos
Proteína C9orf72/genética , Sistema Nervoso Central/metabolismo , Expansão das Repetições de DNA/genética , Expressão Gênica , Estudos de Associação Genética , Genoma Humano/genética , Doenças Neurodegenerativas/genética , Esclerose Lateral Amiotrófica/genética , Proteína C9orf72/metabolismo , Demência Frontotemporal/genética , HumanosRESUMO
A strong correlation between blastocyst morphology and implantation has been shown by many studies. The consequences and effects of assisted reproductive techniques on children's short and long-term health have always been a source of discussion. The obstetric and perinatal outcome of singletons according to blastocyst morphology has rarely been evaluated. The aim of this observational study is to determine whether a relationship exists between blastocyst morphology and obstetric and perinatal outcomes. A total of 799 singleton clinical pregnancies were analysed after transfer of a single fresh blastocyst on day 5 between 2006 and 2013. Blastocysts were divided into four groups based on their morphology on day 5: group 1 = good morphology blastocysts; group 2 = fair morphology blastocysts; group 3 = poor morphology blastocysts and group 4 = early (B1/B2) blastocysts. Obstetric and perinatal outcomes were compared between the four groups. After adjustment for some confounding variables, main obstetric and perinatal outcomes after transfer of blastocysts with poor morphological characteristics were not associated with increased adverse obstetric and perinatal events. Sex ratio was significantly higher in group 1 compared with groups 2, 3 and 4, and in Group 2 compared with Group 3 (P < 0.001) even after adjustment (P < 0.05).
