males, 13 females), fulfilling the DSM-IV criteria for exons 1-7, 6-9 and 8-10 (forward -reverse) for the long
their disorders, were recruited in Paris (Department of isoform and in the 3’UTR-exon10 for the short isoform
Adult Psychiatry, H. Mondor and A. Chenevier Hospi- [22]. The ages of the two males and the two females
tals, Créteil, and Department of Child and Adolescent studied were 74, 42, 55, and 36 years-old, with a post-
Psychiatry, R Debré Hospital, France). Lifetime psychia- mortem delay of 10, 21, 24, and 2 h, respectively.
tric evaluation was carried out during a direct interview Normal control human brains were obtained at autopsy
by trained psychiatrists using the Diagnostic Interview under guidelines approved by the ethics committee
for Genetic Studies (DIGS) [25] and the Kiddie-Schedule
of Affective Disorders and Schizophrenia - epidemiolo- Mutation screening in psychiatric patients
gic version [26] for OCD probands aged under 18 years. The mutation screening was conducted in two steps.
Probands with ASD (72 males, 9 females; 46 trios, 35 First, the exonic sequences of NOS1AP were screened
multiplex families) were recruited by the Paris Autism for genetic variants by direct sequencing with the
Research International Sib-pair (PARIS) study. Patients BigDye kit v3.0 (Applied Biosystems) according to the
with autism or Asperger’s syndrome fulfilled the DSM- manufacturer’s instructions in a sample of schizophrenic
IV criteria for autistic disorder and the Autism Diagnos- patients (n = 72), ASD patients (n = 81) and healthy
hindi sms http://www.hindisms-hindi.com/
tic Interview Revised algorithm for ICD-10 childhood volunteers (n = 93). The exonic sequence and the adja-
autism and the Autism Di本文来自辣.文,论-文·网原文请找腾讯752018766agnostic Interview-Revised cent intronic sequences were considered first as most
[27] criteria for childhood autism. Subjects were likely to harbour functionally important variants. Pri-
included only after a thorough clinical and medical mers were designed using Amplify V3.1 software http://
work-up comprising a full medical and family history, engels.genetics.wisc.edu/amplify/ and are available on
physical and neuropsychological examination, standard request. Then, the rare variants identified were screened
karyotyping and fragile-X testing, blood and urine by direct sequencing in a additionnal sample containing
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