Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins
Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins
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DOI：
10.1006/geno.2002.6810
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发表时间：
2002-08-01
期刊：
影响因子：
4.4
通讯作者：
Villacres, EC
中科院分区：
文献类型：
--
作者：
Sultana, R;Yu, CE;Villacres, EC
我们在这里报告的鉴定和表征的一种新的基因（AUTS 2），跨越7q11.2断点的单卵双胞胎对自闭症和t（7;20）（q11.2; p11.2）易位一致。AUTS 2基因全长1.2Mb，有19个外显子。预测的蛋白质是1295个氨基酸，不对应于任何已知的蛋白质。自闭症受试者和对照组的DNA序列分析显示22个双等位基因多态性位点。对于所有位点，在病例和对照中均观察到两种等位基因。因此，没有观察到自闭症特异性突变。关联分析与两个外显子多态性位点和连锁分析的四个二核苷酸重复标记，两个内和两个侧翼AUTS 2，是阴性的。因此，尽管AUTS 2不太可能是特发性自闭症的自闭症易感基因，但它可能是导致本文研究的双胞胎疾病的基因。
We report here the identification and characterization of a novel gene (AUTS2) that spans the 7q11.2 break-point in a monozygotic twin pair concordant for autism and a t(7;20) (q11.2; p11.2) translocation. AUTS2 is 1.2 Mb and has 19 exons. The predicted protein is 1295 amino acids and does not correspond to any known protein. DNA sequence analysis of autism subjects and controls revealed 22 biallelic polymorphic sites. For all sites, both alleles were observed in both cases and controls. Thus no autism-specific mutation was observed. Association analysis with two exonic polymorphic sites and linkage analysis of four dinucleotide repeat markers, two within and two flanking AUTS2, was negative. Thus, although it is unlikely that AUTS2 is an autism susceptibility gene for idiopathic autism, it may be the gene responsible for the disorder in the twins studied here.