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Y chromosome haplogroups in autistic subjects

2002; Springer Nature; Volume: 7; Issue: 2 Linguagem: Inglês

10.1038/sj.mp.4000968

1476-5578

Stéphane Jamain, Hélène Quach, Lluís Quintana‐Murci, Catalina Betancur, Anne Philippe, C Gillberg, Eili Sponheim, Ola H. Skjeldal, Marc Fellous, Marion Leboyer, Thomas Bourgeron,

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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 chromosome2,3,4 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.