identification of candidate genes responsible for an autism patient with pericentric inversion in chromosome 2.

本研究基于对一名轻度智力低下（IQ 80）和2号染色体臂间倒位（2 p11/2 q13）的自闭症患者的基因组分析，探讨了与自闭症相关的候选基因之一。我们推测2 p11和/或2 q13的断裂点可能是导致该患者病情的原因，并进一步通过FISH分析每个断裂点。三十个BAC克隆对本研究有用。最后，我们将2 p11断裂点缩小到两个BAC克隆RP 11 - 81 F3和RP 11 - 50 B16之间的位点。两个克隆之间的距离约为1.2 Mb。然而，2 p13断裂点限于RP 11 - 68 E19和RP 11 - 592 G13之间的约0.5Mb。然后，我们试图通过FISH进一步限制断裂区域，但这两个区域的核苷酸序列太相似，无法成功分析。后一区域包含两个基因，ANAPC 1和MERTK。我们通过RT-PCR和Southern印迹分析检测了这些基因，但没有检测到异常。这些发现表明，在基因ANAPC 1和MERTK中没有断裂点。最近，2 p11附近区域的新修订的物理图已经被展示。该区域有14个基因。这些基因中的大多数目前尚不清楚，但有两个基因被称为RGPD 2和FGPD 4。我们认为这些基因候选人，并正在分析它们。

This study investigated one of the candidate genes associated with autism based on genomic analyses of an autistic patient with mild mental retardation (IQ 80) and a pericentric inversion at chromosome 2 (2p11/2q13). We speculated that the breaking point of 2p11 and/or 2q13 might be responsible for the condition in this patient and further analyzed each breaking point by FISH analysis.We analyzed genomic DNA from the patient by FISH using more than 40 RPMI-BAC clones. Thirty BAC clones were useful for this study. Finally we narrowed the 2p11 breaking point to a site between two BAC clones, RP11-81F3 and RP11-50B16. The distance between two clones was about 1.2 Mb. However, the 2p13 breaking point was limited to about 0.5 Mb between RP11-68E19 and RP11-592G13. Then, we tried to further limit the breaking area by FISH, but the nucleotide sequences of both regions were too similar to analyze successfully. The latter region contained two genes, ANAPC1 and MERTK. We examined these genes by RT-PCR and Southern blot analysis, but there were no detectable abnormalities. These findings suggest that there were no breaking points in the genes, ANAPC1 and MERTK..Recently, a newly revised physical map of the region around 2p11 has been demonstrated. There are 14 genes in this region. Most of these genes are not yet known currently, but there are two genes known as RGPD2 and FGPD4. We consider these genes candidates and are analyzing them.