| Autor: |
Vourc'h P; Génétique de la Déficience Mentale et de l'Autisme, INSERM U 316, Faculté de Médecine, 2bis, Boulevard Tonnellé, 37032, Tours Cedex, France., Martin I, Marouillat S, Adrien JL, Barthélémy C, Moraine C, Müh JP, Andres C |
| Jazyk: |
angličtina |
| Zdroj: |
Neuroscience letters [Neurosci Lett] 2003 Feb 27; Vol. 338 (2), pp. 115-8. |
| DOI: |
10.1016/s0304-3940(02)01338-1 |
| Abstrakt: |
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 (chi(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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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