Mutation screening of a neutral amino acid transporter, ASCT1, and its potential role in schizophrenia.
Mutation screening of a neutral amino acid transporter, ASCT1, and its potential role in schizophrenia.
复制标题
中性氨基酸转运蛋白 ASCT1 的突变筛选及其在精神分裂症中的潜在作用。
DOI：
10.1097/00041444-200010020-00004
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发表时间：
2000
影响因子：
0.9
通讯作者：
Byerley,WF
中科院分区：
文献类型：
--
作者：
Bennett,PJ;Hoff,M;Rosenthal,J;Zhao,M;Coon,H;Myles-Worsley,M;Byerley,WF
在之前的一项研究中，对来自密克罗尼西亚帕劳的精神分裂症家族的子集进行的基因组扫描提供了证据，表明2p13-14处的微卫星标记存在连锁。此外，在一个扩大的多基因家系(K1583)中，一个11 cm2p13-14的单倍型与8名远亲精神分裂症患者的疾病分离。单倍型区域包括中性氨基酸转运体ASCT1。我们对该转运蛋白的编码区、侧翼内含子序列和5‘-非翻译区进行了突变筛查，研究对象是K1583患者、两名帕劳人对照和一名高加索对照。大多数多态在所有扫描的样本中被发现是沉默的或常见的。在K1583的1个精神分裂症成员中发现了内含子3中的AG/A杂合子，但在其他成员中未发现。在K1583检测的6例精神分裂症患者中，2例发现内含子6内含子AG/A杂合子，1例对照。由于ASCT基因的5‘非翻译区、编码序列或侧翼内含子序列的改变在8个精神分裂症患者中都没有与疾病分离，因此ASCT基因的5’非翻译区、编码序列或侧翼内含子序列的变化不太可能在这些家系中易患精神分裂症。
In a previous study, a genome scan of a subset of schizophrenia families from Palau, Micronesia gave evidence suggestive of linkage to microsatellite markers at 2p13-14. In addition, in a large extended multiplex pedigree (K1583), an 11 cM 2p13-14 haplotype segregated with the illness in eight distantly related schizophrenics. The haplotype region includes a neutral amino acid transporter, ASCT1. We mutation-screened the coding region, flanking intronic sequence and 5′-untranslated region of this transporter in affected members of K1583, two Palauan controls and one Caucasian control. Most polymorphisms were found to be silent or common to all samples scanned. AG/A heterozygote within intron 3 was found in one schizophrenic member of K1583, but was not found in any of the other affected members of K1583. AG/A heterozygote within intron 6 was found in two of six schizophrenics tested in K1583, and in one control. As none of the sequence polymorphisms segregated with illness in the eight schizophrenics, it is unlikely that changes in the 5′-untranslated region, coding sequence or flanking intronic sequence of the ASCT gene predispose to schizophrenia in these families.