Exclusion of the neuronal nicotinic acetylcholine receptor α7 subunit gene as a candidate for catatonic schizophrenia in a large family supporting the chromosome 15q13-22 locus
Exclusion of the neuronal nicotinic acetylcholine receptor α7 subunit gene as a candidate for catatonic schizophrenia in a large family supporting the chromosome 15q13-22 locus
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DOI：
10.1038/sj.mp.4000970
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发表时间：
2002-01-01
影响因子：
11
通讯作者：
Lesch, KP
中科院分区：
文献类型：
--
作者：
Meyer, J;Ortega, G;Lesch, KP
编码神经元烟碱乙酰胆碱受体α 7亚基（CHRNA 7）的基因位于染色体15q13.2上。该区域被认为参与了以下疾病的发病机制：（a）精神分裂症合并神经生理缺陷;（B）锂反应性双相情感障碍;和（c）家族性紧张性精神分裂症（周期性紧张症）。因此，强烈支持染色体15 q13 -22区域的周期性紧张症的大家族的成员与位于CHRNA 7位点周围的多态性标记进行基因分型。在家系的一个分支中检测到标记D15 S144远端的重组事件，导致CHRNA 7基因座从该候选区域排除。这一结果提供了强有力的证据，位于端粒的CHRNA 7基因是致病的紧张性精神分裂症在这个家庭的发病机制。
The gene encoding the neuronal nicotinic acetylcholine receptor alpha7 subunit (CHRNA7) is located on chromosome 15q13.2. This region was suggested to be involved in the etiopathogenesis of: (a) schizophrenia combined with a neurophysiological deficit; (b) lithium-responsive bipolar disorder; and (c) familial catatonic schizophrenia (periodic catatonia). Therefore, members of a large family with periodic catatonia strongly supporting the chromosome 15q13-22 region were genotyped with polymorphic markers localized around the CHRNA7 locus. A recombination event distally of marker D15S144 leading to the exclusion of the CHRNA7 locus from this candidate region was detected in one branch of the pedigree. This result provides strong evidence that a gene located telomeric to CHRNA7 is causative for the pathogenesis of catatonic schizophrenia in this family.