排除精神分裂症与编码中性氨基酸谷氨酸/天冬氨酸转运体（SLC1A5）的基因之间的连锁关系。

Exclusion of linkage between schizophrenia and the gene encoding a neutral amino acid glutamate/aspartate transporter, SLC1A5.

作者信息

Chen A C, Kalsi G, Brynjolfsson J, Sigmundsson T, Curtis D, Butler R, Read T, Murphy P, Barnard E A, Petursson H, Gurling H M

机构信息

Department of Psychiatry, University College London Medical School, UK.

出版信息

Am J Med Genet. 1997 Feb 21;74(1):50-2.

PMID:9034006

Abstract

An abnormality in glutamatergic function has been hypothesized as being of etiological importance in schizophrenia. Twenty-three multiplex English and Icelandic schizophrenia families were genotyped with a polymorphic dinucleotide repeat sequence in the 3'-untranslated region of the glutamate/aspartate transporter gene called SLC1A5. Using the lod and a model-free method of linkage analysis (MFLINK), no evidence of linkage between SLC1A5 and schizophrenia was found. Our results do not support the hypothesis that SLC1A5 gene mutations or allelic variants provide a major gene contribution to the etiology of schizophrenia. However, because of the likelihood of heterogeneity of linkage in schizophrenia, there is a case for testing other pedigrees for linkage to the SLC1A5 locus. The SLC1A5 locus is one of a complex family of genes encoding neutral amino acid transporter proteins and the genetic relation between these other loci and schizophrenia has not yet been established.

摘要

谷氨酸能功能异常被认为在精神分裂症的病因学中具有重要意义。对23个英裔和冰岛裔精神分裂症多重家庭进行了基因分型，使用位于谷氨酸/天冬氨酸转运体基因（称为SLC1A5）3'-非翻译区的多态性二核苷酸重复序列。采用对数优势计分法和无模型连锁分析方法（MFLINK），未发现SLC1A5与精神分裂症之间存在连锁证据。我们的结果不支持SLC1A5基因突变或等位基因变异对精神分裂症病因有主要基因贡献的假说。然而，由于精神分裂症连锁异质性的可能性，有必要对其他家系进行SLC1A5位点连锁检测。SLC1A5位点是编码中性氨基酸转运蛋白的复杂基因家族之一，这些其他位点与精神分裂症之间的遗传关系尚未确立。