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Y chromosome haplogroups in autistic subjects

Journal article
Authors Stéphane Jamain
Hèléne Quach
Luis Quintana-Murci
Catalina Betancur
Anne Philippe
Christopher Gillberg
Eili Sponheim
Ola H. Skjeldal
Marc Fellous
Marion Leboyer
Thomas Bougeron
Published in Molecular Psychiatry
Volume 7
Issue 2
Pages 217-219
ISSN 1359-4184
Publication year 2002
Published at Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
Pages 217-219
Language en
Keywords Autistic Disorder, Genetics, Child, Female, Genetic Markers, Haplotypes, Humans, Male, Sex Factors, Y Chromosome
Subject categories Psychiatry, Medical and Health Sciences


The male to female ratio in autism is 4:1 in the global autistic population, but increases to 23:1 in autistic subjects without physical or brain abnormalities. 1 Despite this well-recognised gender difference, male predisposition to autistic disorder remains unexplained and the role of sex chromosomes is still debated. Numerical and structural abnormalities of the sex chromosomes are among the most frequently reported chromosomal disorders associated with autism. However, genome scans have failed to detect linkage on the X chromosome chromosome2–4 and this approach cannot study the non-recombining region of the Y chromosome. In this study, we searched for a specific Y chromosome effect in autistic subjects. Using informative Y-polymorphic markers, the Y chromosome haplotypes of 111 autistic subjects from France, Sweden and Norway were defined and compared with relevant control populations. No significant difference in Y- haplotype distribution between the affected and control groups was observed. Although this study cannot exclude the presence of a Y susceptibility gene, our results are not suggestive of a Y chromosome effect in autism.

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