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首页> 外文期刊>Genomics >Identification of genes from a schizophrenia-linked translocation breakpoint region.
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Identification of genes from a schizophrenia-linked translocation breakpoint region.

机译：从精神分裂症相关的易位断点区域的基因鉴定。

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The translocation t(1:11)(q42.1,q14.3) has previously been found to be linked with schizophrenia. Genes present at the chromosome 1 breakpoint have been investigated in some detail but little was known about genes in the chromosome 11 breakpoint region. Here we report a BAC clone contig encompassing 2.51 Mb around the chromosome 11 breakpoint, which was constructed computationally using draft genomic sequence data and existing mapping data for the region. The contig includes 26 clones and has led to the identification and relative ordering of 10 candidate genes in the region, including 2 novel transcripts. It constitutes a resource for polymorphic marker discovery and association studies to validate or reject candidate genes. Four candidate genes appear to be particularly promising based upon their proximity to the breakpoint and their likely functional roles. Three of these are involved in glutamatergic neurotransmission (the glutamate receptor GRM5, NAALADase II, and a close homolog), perturbation of which is one of the most widely held theories on the underlying biochemistry of schizophrenia. The 4th gene, tyrosinase, has been previously linked to schizophrenia through the cosegregation of oculocutaneous albinism with psychosis in several pedigrees. Copyright 2001 Academic Press.
机译：以前已经发现易位t（1:11）（q42.1，q14.3）与精神分裂症有关。已经对第1号染色体断点处的基因进行了详细研究，但对11号染色体断点区中的基因知之甚少。在这里，我们报告了一个BAC克隆重叠群，其在11号染色体断裂点周围包含2.51 Mb，该克隆是使用基因组草图数据和该地区现有的定位数据通过计算构建的。重叠群包括26个克隆，并导致该区域10个候选基因的鉴定和相对排序，其中包括2个新的转录本。它构成了用于多态性标记物发现和关联研究以验证或拒绝候选基因的资源。基于四个候选基因与断点的接近程度和可能的功能作用，它们似乎特别有前途。其中三个与谷氨酸能神经传递有关（谷氨酸受体GRM5，NAALADase II和紧密同源），其摄动是关于精神分裂症潜在生物化学的最广泛的理论之一。之前，第四个基因酪氨酸酶通过眼皮白化病和精神病在几个家系中的共分离而与精神分裂症有关。版权所有2001，学术出版社。

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