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

鉴定导致自闭症患者 2 号染色体中心倒位的候选基因。

基本信息

批准号：
15591252
负责人：
YAMADA Yasukazu
金额：
$ 1.86万
依托单位：
Institute for Developmental Research, Aichi Human Service Center
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2003
资助国家：
日本
起止时间：
2003 至 2005
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-15591252/
关键词：
autism pericentric inversion FISH Southern analysis mutation PCR chromosome 2 BAC clones

项目摘要

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.

这项研究基于对一名患有轻度智力低下(智商80)和2号染色体着丝粒周围倒位(2p11/2q13)的自闭症患者的基因组分析，研究了与自闭症相关的候选基因之一。我们推测2p11和/或2q13的断裂点可能与这位患者的病情有关，并进一步通过FISH分析了每个断裂点。我们使用40多个RPMI-BAC克隆通过FISH分析了患者的基因组DNA。30个BAC克隆对本研究有用。最后，我们将2p11断裂点缩小到两个BAC克隆RP11-81F3和RP11-50B16之间。两个克隆之间的距离约为1.2Mb。然而，在RP11-68E19和RP11-592G13之间，2p13的断裂点仅限于约0.5Mb。然后，我们试图进一步限制FISH的断裂区域，但两个区域的核苷酸序列过于相似，无法成功分析。后一个区域含有ANAPC1和MERTK两个基因。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，ANAPC1和MERTK基因没有断裂点。最近，一张新修订的2p11左右区域的物理图谱已经被展示出来。这一区域有14个基因。这些基因中的大多数目前还不为人所知，但有两个基因被称为RGPD2和FGPD4。我们认为这些基因是候选基因，并正在对它们进行分析。