Arolt V, Lencer R, Nolte A, Müller-Myhsok B, Purmann S, Schürmann M, Leutelt J, Pinnow M, Schwinger E
Department of Psychiatry, University of Lübeck School of Medicine, Germany.
Am J Med Genet. 1996 Nov 22;67(6):564-79. doi: 10.1002/(SICI)1096-8628(19961122)67:6<564::AID-AJMG10>3.0.CO;2-R.
The difficulties in defining the borders of the schizophrenia spectrum is one major source of variance in linkage studies of schizophrenia. The employment of biological markers may prove advantageous. Due to empirical evidence, eye tracking dysfunction (ETD) has been discussed to be the most promising marker for genetic liability to schizophrenia. With respect to the recent progress in genomic scans, which have pointed to the short arm of chromosome 6, we carried out a scan of the 6p21-23 region with 16 microsatellite markers to test for linkage between chromosomal markers and ETD as well as schizophrenia. We tested 5 models of inheritance of ETD and found maximum two-point lod scores of 3.51 for D6S271 and 3.44 for D6S282. By including these markers in a multipoint analysis, a lod score of 4.02 was obtained. In the case of schizophrenia, 7 models were tested; however, with non-significant results. Our findings, together with another recent linkage report, point to the possibility of a second susceptibility locus for schizophrenia which may be located centromeric to the HLA region. Also, the evidence of ETD being a susceptibility marker for schizophrenia receives further support.
精神分裂症谱系边界定义上的困难是精神分裂症连锁研究中变异的一个主要来源。生物标志物的应用可能被证明具有优势。基于经验证据，眼动追踪功能障碍（ETD）已被认为是精神分裂症遗传易感性最有前景的标志物。鉴于基因组扫描的最新进展指向了6号染色体短臂，我们用16个微卫星标记对6p21 - 23区域进行了扫描，以检测染色体标记与ETD以及精神分裂症之间的连锁关系。我们测试了ETD的5种遗传模式，发现D6S271的最大两点对数优势比分数为3.51，D6S282为3.44。通过将这些标记纳入多点分析，获得了4.02的对数优势比分数。对于精神分裂症，测试了7种模式；然而，结果不显著。我们的研究结果与最近的另一项连锁报告一起，指出了精神分裂症可能存在第二个易感基因座的可能性，该基因座可能位于HLA区域的着丝粒侧。此外，ETD作为精神分裂症易感标志物的证据得到了进一步支持。
