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对一个大型瑞典家族的连锁分析为6号染色体p23区域存在精神分裂症易感基因座提供了进一步支持。

Linkage analysis of a large Swedish kindred provides further support for a susceptibility locus for schizophrenia on chromosome 6p23.

作者信息

Lindholm E, Ekholm B, Balciuniene J, Johansson G, Castensson A, Koisti M, Nylander P O, Pettersson U, Adolfsson R, Jazin E

机构信息

Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.

出版信息

Am J Med Genet. 1999 Aug 20;88(4):369-77.

Abstract

Several reports have indicated genetic linkage between markers on the short arm of chromosome 6 and schizophrenia. However, significant threshold levels were not always achieved, and the chromosomal regions identified are large and different in different families. One way to decrease the problem of heterogeneity is to study a single extended pedigree. Here we report the analysis of a very large, previously undescribed pedigree from northern Sweden that includes 31 affected individuals. We typed 16 markers spanning 40 cM on the short arm of chromosome 6. Linkage analysis was performed only with the affected individuals. Suggestive lod scores (maximum 2.6) were obtained with markers on chromosome 6p23 in a single branch of the large pedigree indicating possible heterogeneity inside the family. A haplotype comprising markers from D6S309 to D6S1578 was found to segregate with the disease. This chromosomal region is included within a segment proposed to contain a susceptibility gene for schizophrenia by many other investigators. Our results thus give further support for a possible localization of a susceptibility locus for schizophrenia in 6p23 and help to narrow the candidate chromosomal region to the segment included between markers D6S309 and D6S1578.

摘要

几份报告指出,6号染色体短臂上的标记与精神分裂症之间存在遗传连锁。然而,并非总能达到显著的阈值水平,而且所确定的染色体区域很大,且在不同家族中有所不同。减少异质性问题的一种方法是研究一个单一的扩展家系。在此,我们报告了对瑞典北部一个非常大的、此前未描述过的家系的分析,该家系包括31名患病个体。我们对6号染色体短臂上跨度为40厘摩的16个标记进行了分型。仅对患病个体进行了连锁分析。在这个大家系的一个分支中,6号染色体p23上的标记获得了提示性的对数优势分数(最高为2.6),表明家族内部可能存在异质性。发现一个包含从D6S309到D6S1578标记的单倍型与疾病共分离。许多其他研究者提出,这个染色体区域包含在一个可能含有精神分裂症易感基因的区段内。因此,我们的结果进一步支持了精神分裂症易感位点可能定位于6p23,并有助于将候选染色体区域缩小到D6S309和D6S1578标记之间的区段。

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