Mutation analysis of the C1QTNF3 gene in patients with schizophrenia.

Mutation analysis of the C1QTNF3 gene in patients with schizophrenia.
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DOI:
10.1016/j.psychres.2009.10.011
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发表时间:
2010-09-30
影响因子:
11.3
通讯作者:
Silverman, Jeremy
Silverman, Jeremy
中科院分区:
医学2区
文献类型:
--
作者:
Bespalova, Irina;Angelo, Gary;Ritter, Benjamin;Rossy-Fullana, Enrique;Carrion-Baralt, Jose;Durner, Martina;Silverman, Jeremy

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我们之前在波多黎各家系中发现了 5p13 号染色体上与精神分裂症相关的一个小区域。我们筛选了位置候选基因之一 C1QTNF3,以了解受影响家庭成员的突变情况。直接测序鉴定出 10 个序列变异,其中五个是所有受影响的家庭成员共有的。对波多黎各 118 例病例和 136 名对照样本中共有变异的基因分型并未揭示与精神分裂症的等位基因或基因型关联。
We previously identified a small region on chromosome 5p13 related to schizophrenia in a Puerto Rican pedigree. We screened one of the positional candidate genes, C1QTNF3, for mutations in affected family members. The direct sequencing identified 10 sequence variants, including five shared by all affected family members. Genotyping of the shared variants in a Puerto Rican sample of 118 cases and 136 controls did not reveal either allelic or genotype association with schizophrenia.
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