在一对自闭症双胞胎中，发现7号染色体长臂11.2区上的一个新基因被易位断点中断。

Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins.

作者信息

Sultana Razia, Yu Chang-En, Yu Jun, Munson Jeffery, Chen Donghui, Hua Wenhui, Estes Annette, Cortes Fanny, de la Barra Flora, Yu Dongmei, Haider Syed T, Trask Barbara J, Green Eric D, Raskind Wendy H, Disteche Christine M, Wijsman Ellen, Dawson Geraldine, Storm Daniel R, Schellenberg Gerard D, Villacres Enrique C

机构信息

Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA.

出版信息

Genomics. 2002 Aug;80(2):129-34. doi: 10.1006/geno.2002.6810.

DOI:10.1006/geno.2002.6810

PMID:12160723

Abstract

We report here the identification and characterization of a novel gene (AUTS2) that spans the 7q11.2 breakpoint 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.

摘要

我们在此报告一个新基因（AUTS2）的鉴定与特征，该基因跨越一对患自闭症的同卵双胞胎中的7q11.2断点以及一个t(7;20) (q11.2; p11.2)易位。AUTS2基因长1.2兆碱基对，有19个外显子。预测的蛋白质有1295个氨基酸，与任何已知蛋白质均不对应。对自闭症患者和对照者的DNA序列分析揭示了22个双等位基因多态性位点。对于所有位点，在病例组和对照组中均观察到了两个等位基因。因此未观察到自闭症特异性突变。对两个外显子多态性位点的关联分析以及对四个二核苷酸重复标记（两个在AUTS2基因内部，两个在其侧翼）的连锁分析均为阴性。因此，虽然AUTS2基因不太可能是特发性自闭症的易感基因，但它可能是此处所研究双胞胎中该疾病的致病基因。