Vourc'h Patrick, Martin Isabelle, Marouillat Sylviane, Adrien Jean Louis, Barthélémy Catherine, Moraine Claude, Müh Jean Pierre, Andres Christian
Génétique de la Déficience Mentale et de l'Autisme, INSERM U 316, Faculté de Médecine, 2bis, Boulevard Tonnellé, 37032, Tours Cedex, France.
Neurosci Lett. 2003 Feb 27;338(2):115-8. doi: 10.1016/s0304-3940(02)01338-1.
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.
我们之前在4名自闭症患者中观察到位于1型神经纤维瘤病（NF1）基因（17q11.2）第27b内含子中的GXAlu微卫星标记的一个新等位基因（GXAlu 5）。这个大内含子包含OMGP基因，该基因编码由神经元和少突胶质细胞表达的少突胶质细胞髓鞘糖蛋白。在本研究中，我们分析了与GXAlu标记最近的基因OMGP基因的一个编码单核苷酸多态性（OMGP62）在一个对照组（n = 101）和一个自闭症组（n = 65）中的分布情况。比较这两组时，我们观察到等位基因分布没有显著差异（卡方 = 1.81；P = 0.179）。当区分发育商（DQ）高于30的自闭症组（n = 37）和DQ低于30的自闭症组（n = 28）时，我们观察到等位基因A与DQ最高的组之间存在关联（P = 0.015）。在携带OMGP62等位基因A的16名自闭症患者的OMGP编码区域中，通过单链构象多态性（SSCP）筛查和DNA测序，我们未发现其他多态性。
