Linkage analysis of the fragile X gene FMR-1 and schizophrenia: No evidence for linkage but report of a family with schizophrenia and an unstable triplet repeat
Linkage analysis of the fragile X gene FMR-1 and schizophrenia: No evidence for linkage but report of a family with schizophrenia and an unstable triplet repeat
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DOI：
10.1097/00041444-199622000-00008
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发表时间：
1996-06-01
影响因子：
0.9
通讯作者：
Collier, DA
中科院分区：
文献类型：
--
作者：
Ashworth, A;Abusaad, I;Collier, DA
我们已经检查了23个家庭多重影响精神分裂症的连锁与FMR-1基因的X染色体上。在FMR-1 CGG三重重复的等位基因进行了分析，聚合酶链反应，并在FMR-1基因座的甲基化状态与证据的个人扩大或不稳定的重复进行了分析，通过Southern杂交。两点LOD评分分析与一系列的X连锁单基因模型和非参数影响同胞对方法显示没有证据的连锁。然而，在一个家庭中，一个脆弱的X前突变被发现，一个人与精神分裂症和发育迟缓是一个马赛克的完整和前突变。我们的结论是，虽然FMR-1基因内的突变没有一个主要的病因作用，在我们收集的家系精神分裂症，它是可能的，FMR-1突变可以媒体精神分裂症的临床表型。
We have examined 23 families multiply affected with schizophrenia for linkage to the FMR-1 gene on the X chromosome. Alleles at the FMR-1 CGG triplet repeat were analysed by the polymerase chain reaction, and methylation status at the FMR-1 locus in individuals with evidence of expanded or unstable repeats was analysed by Southern hybridization. Two-point LOD score analyses with a range of X-linked single gene models and a non-parametric affected sib-pair method revealed no evidence for linkage. In one family, however, a fragile X premutation was found, and one individual with schizophrenia and developmental delay was a mosaic for the full and premutation. We conclude that although mutations within the FMR-I gene do not have a major aetiological role in schizophrenia in our collection of pedigrees, it is possible that FMR-1 mutations can media the clinical phenotype of schizophrenia.