Will Researchers Look For Copy Number Variations in the Sperm Making Cells of Fathers of children with CNVs?
The groundbreaking research finding CNVs in some children with sporadic autism has been published. Will the researchers look at the sperm and spermatagonia of the fathers of these children along with all the other fathers and control group?
67.
Vorstman JAS, Staal WG, van DE, van EH, Hochstenbach PFR,
Franke L: Identification of novel autism candidate regions
through analysis of reported cytogenetic abnormalities
associated with autism. Mol Psychiatry 2006, 11:18-28.
This paper summarized chromosome regions known to be associated
with autism phenotype. 15q11.2, 2qter and 22qter represent the most
frequent loci.
68.
Jacquemont M-L, Sanlaville D, Redon R, Raoul O,
Cormier-Daire V, Lyonnet S, Amiel J, Le MM, Heron D,
De Blois M-C et al.: Array- based comparative genomic
hybridization identifies high frequency of cryptic
chromosomal rearrangements in patients with syndromic
autism spectrum disorders. J Med Genet 2006, 43:843-849.
The authors used 1 Mb array CGH to screen 29 patients with autism
spectrum disorders and identified eight clinically relevant genomic rearrangements.
69.
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T,
Yamrom B, Yamron B, Yoon S, Krasnitz A et al.: Strong
association of de novo copy number mutations with autism.
Science 2007, in press.
The application of a genome-wide array CGH with 85 000 oligonucleotide
probes (ROMA) (see [27]) in 165 families with autism showed a statistically
significant association of de novo CNV.
Labels: Copy Number Variations, Deletions of Copy of genes, fathers, Genes, Jonathan Sebat, Mary Claire King, Michael Wiggler, sperm, spermatagonia, sporadic autism
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