Abstract

We previously observed in four autistic patients a new allele (GXAlu 5) of the GXAlu microsatellite marker located in intron 27b of the neurofibromatosis type 1 ( NF1) gene (17q11.2). This large intron contains the OMGP gene, coding for the oligodendrocyte myelin glycoprotein expressed by neurons and oligodendrocytes. In the present work, we analysed the distribution of a coding single nucleotide polymorphism (OMGP62) of the OMGP gene, the nearest gene to the GXAlu marker, in a control population ( n=101) and in an autistic group ( n=65). We observed no significant difference in allele distribution comparing these two groups (χ 2=1.81; P=0.179). When distinguishing an autistic group with a developmental quotient (DQ) higher than 30 ( n=37) and one with a DQ lower than 30 ( n=28), we observed an association between allele A and the group with the highest DQ ( P=0.015). We found no other polymorphism using SSCP screening and DNA sequencing in the OMGP coding region in 16 autistic patients bearing OMGP62 allele A.

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