association between NOS1AP and SCZ. These results analyses for metabolic screening. Healthy controls of
were reproduced in three independent samples of European descent (n = 93) were recruited among blood
patients [18-20]. NOS1AP is in adaptor protein, which donors at the Pitié-Salpétrière Hospital in Paris, France
binds to neuronal nitric oxyde synthase, eliciting S- (49 males, 44 females). All controls were included after
hindi sms http://www.hindisms-hindi.com/
nitrosylation and activation of Dextras 1, which regulate being interviewed with the DIGS and with the Family
NMDA receptor-mediated glutamate neurotransmission Interview for Genetic Studies [28] to confirm the
[21]. Using quantitative real time polymerase chain reac- absence of both personal and familial history of psychia-
tion, Xu et al., [22] reported an increased of the tric disorders.
NOS1AP short isoform mRNA in the dorso-prefrontal The local Research Ethics Boards reviewed and
cortex of schizophrenic patients. The over expression approved the study. Written informed consent was
this short isoform mRNA could本文来自辣.文,论-文·网原文请找腾讯752018766 disrupt NMDA receptor obtained from all probands and controls. If the proband
function [23] and increase the risk of a psychiatric con- was under 18 years old, the proband’s consent and writ-
dition such as SCZ, ASD or OCD. More recently, Wrat- ten parental consent were obtained.
ten et al., [24] reported that a risk allele, located in
intron 2 and associated with schizophrenia, could Gene characterization
enhance transcription factor binding and increase gene The genomic structure of NOS1AP was obtained from
expression. Together, these findings make NOS1AP as a
http://genome.ucsc-du/. Exon-intron boundaries were
compelling candidate for several psychiatric disorders. identified and primers designed to cover the regulatory
However, no coding mutation in NOS1AP has been splice site regions and the exons using the previous
reported [17] and the positive association only concerns Web site. NOS1AP covers a genomic region of 298 Kb
SNPs that have no established functional role. The aim and comprises 10 exons. As reported by Xu et al., [19],
of this study was to explore the expression pattern of the long isoform is composed of exons 1 to 10 and
NOS1AP in human tissues and its sequence variability encodes a protein of 75 kDa. The short isoform is com-
in a large population of subjects (n = 280), including posedofexons9and10,andencodesaproteinof
patients with schizophrenia(n=72),ASD(n=81)or 30 kDa. Both proteins contain a PDZ domain.
OCD (n = 34), and in healthy volunteers controlled for
the absence of personal or familial history of psychiatric Expression of NOS1AP long and short isoforms in human
disorders (n = 93). tissues
One microgram of total RNA from different tissues and
Methods specifically from regions of the human brain was reverse
Patients transcribed using the Gene Amp RNA PCR kit (Perkin-
Schizophrenic (46 males, 26 females) and OCD (21 Elmer Corp., Norwalk, CT) and primers located in
上一页 [1] [2] [3] 下一页
Mutation screening of gene in a largeNOS1AP sample of psychiatric patients and controls 第2页下载如图片无法显示或论文不完整，请联系qq752018766
